Published in J Hered on June 25, 1981
A 78-kilobase region of mouse chromosome 3 contains salivary and pancreatic amylase genes and a pseudogene. Proc Natl Acad Sci U S A (1985) 0.94
Two distinct pancreatic amylase genes are active in YBR mice. Genetics (1982) 0.91
Simultaneous expression of salivary and pancreatic amylase genes in cultured mouse hepatoma cells. Mol Cell Biol (1986) 0.85
Mouse chromosome 3. Mamm Genome (1991) 0.76
Mouse chromosome 3. Mamm Genome (1992) 0.75
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet (2000) 5.05
Nomenclature of voltage-gated sodium channels. Neuron (2000) 3.10
Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice. Neuron (1997) 3.01
Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nat Genet (1995) 2.99
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry (2003) 2.48
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet (2000) 2.21
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience (2001) 2.14
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell (1997) 2.13
Comparative sequence of human and mouse BAC clones from the mnd2 region of chromosome 2p13. Genome Res (1999) 1.94
Evolution and diversity of mammalian sodium channel genes. Genomics (1999) 1.94
Endogenous retroviral sequences are required for tissue-specific expression of a human salivary amylase gene. Genes Dev (1992) 1.92
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Am J Hum Genet (2001) 1.91
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci (2001) 1.91
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet (2005) 1.90
Retroviral and pseudogene insertion sites reveal the lineage of human salivary and pancreatic amylase genes from a single gene during primate evolution. Mol Cell Biol (1990) 1.79
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci (2004) 1.77
Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron. J Biol Chem (1996) 1.71
Functional analysis of the mouse Scn8a sodium channel. J Neurosci (1998) 1.69
A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J Neurosci (1996) 1.59
Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. J Biol Chem (1997) 1.49
Rate of spontaneous mutation at human loci encoding protein structure. Proc Natl Acad Sci U S A (1980) 1.49
Characterization of a phosphatase specific for phosphorylated histones and protamine. J Biol Chem (1969) 1.37
Thin-layer chromatographic studies of human brain gangliosides. Biochim Biophys Acta (1966) 1.35
Tissue-specific and insulin-dependent expression of a pancreatic amylase gene in transgenic mice. Mol Cell Biol (1987) 1.35
Meeting report: 10th International Mouse Genome Conference. Mamm Genome (1997) 1.28
Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics (1994) 1.25
Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics (1998) 1.24
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience (2003) 1.22
Mouse Brca1: localization sequence analysis and identification of evolutionarily conserved domains. Hum Mol Genet (1995) 1.22
Concerted evolution of human amylase genes. Mol Cell Biol (1988) 1.18
Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6). Genes Brain Behav (2008) 1.18
Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet (1998) 1.17
Cooperation of Pax2 and Pax5 in midbrain and cerebellum development. Proc Natl Acad Sci U S A (1997) 1.16
Genetic determination of amylase synthesis in the mouse. J Biol Chem (1981) 1.14
Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice. J Biol Chem (1978) 1.13
Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics (1999) 1.13
GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA). Somatic Cell Genet (1979) 1.11
Expression of the human amylase genes: recent origin of a salivary amylase promoter from an actin pseudogene. Nucleic Acids Res (1988) 1.09
Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Hum Mol Genet (1999) 1.05
Evolution of the amylase multigene family. YBR/Ki mice express a pancreatic amylase gene which is silent in other strains. J Biol Chem (1985) 1.05
Separation of allelic variants by two-dimensional electrophoresis. Am J Hum Genet (1982) 1.03
Regulation of amylase gene expression in diabetic mice is mediated by a cis-acting upstream element close to the pancreas-specific enhancer. Genes Dev (1990) 1.02
Conserved linkage within a 4-cM region of mouse chromosome 9 and human chromosome 11. Genetics (1984) 1.00
Transgenic mice carrying a murine amylase 2.2/SV40 T antigen fusion gene develop pancreatic acinar cell and stomach carcinomas. Oncogene (1991) 1.00
mnd2: a new mouse model of inherited motor neuron disease. Genomics (1993) 0.98
Insulin response of a hybrid amylase/CAT gene in transgenic mice. J Biol Chem (1988) 0.97
Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat. Genomics (1990) 0.96
Genes encoding pancreatic polypeptide and neuropeptide Y are on human chromosomes 17 and 7. J Clin Invest (1986) 0.96
The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum Mol Genet (2000) 0.95
Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6. Hum Mol Genet (1994) 0.95
A 78-kilobase region of mouse chromosome 3 contains salivary and pancreatic amylase genes and a pseudogene. Proc Natl Acad Sci U S A (1985) 0.94
Rare structural variants of human and murine uroporphyrinogen I synthase. Proc Natl Acad Sci U S A (1980) 0.93
Binding of a pancreatic nuclear protein is correlated with amylase enhancer activity. Nucleic Acids Res (1989) 0.90
Assignment of pancreatic ribonuclease gene to mouse chromosome 14. Cytogenet Cell Genet (1986) 0.89
Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15. Genomics (1995) 0.89
Testosterone effects on the induction and urinary excretion of mouse kidney glycosphingolipids associated with lysosomes. J Biol Chem (1981) 0.89
The sodium channel Scn8a is the major contributor to the postnatal developmental increase of sodium current density in spinal motoneurons. J Neurosci (1998) 0.88
Independent regulation of nonallelic pancreatic amylase genes in diabetic mice. J Biol Chem (1984) 0.88
Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. J Hered (1984) 0.88
Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN. Genomics (1999) 0.88
Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. Genomics (1998) 0.86
Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20. Genomics (1993) 0.86
Effects of the Bgs locus on mouse beta-galactosidase. Biochem Genet (1976) 0.86
Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7. Cytogenet Cell Genet (1987) 0.85
Simultaneous expression of salivary and pancreatic amylase genes in cultured mouse hepatoma cells. Mol Cell Biol (1986) 0.85
High-resolution genetic, physical, and transcript map of the mnd2 region of mouse chromosome 6. Genomics (1998) 0.84
Interstrain variation in amylase gene copy number and mRNA abundance in three mouse tissues. Genetics (1986) 0.83
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. J Med Genet (2001) 0.83
Localization of insulin-2 (Ins-2) and the obesity mutant tubby (tub) to distinct regions of mouse chromosome 7. Genomics (1992) 0.82
Pigmentation and lysosome function in mice homozygous for both pale ear and beige-J pigment genes. Genet Res (1980) 0.82
A salivary amylase transgene is efficiently expressed in liver but not in parotid gland of transgenic mice. Nucleic Acids Res (1989) 0.81
Human PCK1 encoding phosphoenolpyruvate carboxykinase is located on chromosome 20q13.2. Genomics (1993) 0.81
The human amylase-encoding genes amy2 and amy3 are identical to AMY2A and AMY2B. Gene (1989) 0.81
The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3. Genomics (1993) 0.81
Glucocorticoid and developmental regulation of amylase mRNAs in mouse liver cells. Mol Cell Biol (1988) 0.80
An insulin-responsive element in the pancreatic enhancer of the amylase gene. J Biol Chem (1993) 0.80
Intestinal calcium absorption and vitamin D metabolism. J Clin Gastroenterol (1982) 0.79
Location of the 9257 and ataxia mutations on mouse chromosome 18. Mamm Genome (1996) 0.78
Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice. Brain Res (1999) 0.78
Conserved linkage of neurotrophin-3 and von Willebrand factor on mouse chromosome 6. Mamm Genome (1993) 0.78
Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPO. Genomics (1996) 0.78
Isolation of the murine ribonuclease gene Rib-1: structure and tissue specific expression in pancreas and parotid gland. Nucleic Acids Res (1991) 0.77
Mouse p150Glued (dynactin 1) cDNA sequence and evaluation as a candidate for the neuromuscular disease mutation mnd2. Biochem Biophys Res Commun (1997) 0.77
Insertional mutation of the hairless locus on mouse chromosome 14. Mamm Genome (1993) 0.77
Linkage of the structural gene for uroporphyrinogen I synthase to markers on mouse chromosome 9 in a cross between feral and inbred mice. Biochem Genet (1982) 0.77
Kinetics of subcellular distribution in rat intestine of 1,25-dihydroxycholecalciferol administered in vivo. Evidence for concentration within 5 min into purified nuclei. Biochem J (1982) 0.77
Genetic mapping of the voltage-gated shaker potassium channel beta subunit Kcnab1 to mouse chromosome 3. Mamm Genome (1998) 0.77
Mouse chromosome 3. Mamm Genome (1994) 0.77
Transgene-induced mutation of the murine steel locus. Proc Natl Acad Sci U S A (1990) 0.77
Identification of genes within the Krd deletion on mouse chromosome 19. Mamm Genome (1999) 0.76
Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities. Genetics (1994) 0.76
Mapping of the taurine transporter gene to mouse chromosome 6 and to the short arm of human chromosome 3. Genomics (1995) 0.76
Transactivation of pancreas-specific gene sequences in somatic cell hybrids. Mol Cell Biol (1991) 0.76
DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes. Mamm Genome (2001) 0.76
Aup1, a novel gene on mouse chromosome 6 and human chromosome 2p13. Genomics (1996) 0.76
Conserved linkage of early growth response 4, annexin 4, and transforming growth factor alpha on mouse chromosome 6. Genomics (1994) 0.75
Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 3. Mamm Genome (1993) 0.75
Evidence that the same structural gene encodes testicular and adrenal 3 beta-hydroxysteroid dehydrogenase-isomerase. Biochem Genet (1987) 0.75
Mapping of the neural retina leucine zipper gene, Nrl, to mouse chromosome 14. Mamm Genome (1993) 0.75