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Targeted Allele Detail
Symbol: Nos1tm1Plh
Name: nitric oxide synthase 1, neuronal; targeted mutation 1, Paul L Huang
MGI ID: MGI:1857227
Synonyms: alphaNOS1, Kn, N2KO, nNOS-, nNOS-, nNOS KO, NOSdelta
Gene: Nos1  Location: Chr5:117781032-117958840 bp, + strand  Genetic Position: Chr5, 57.29 cM, cytoband F
Renal tubular apoptosis, regeneration, glomerulosclerosis and glomerular thrombus formation in Nos1tm1Plh/Nos1tm1Plh Nos2tm1Mrl/Nos2tm1Mrl Nos3tm1Plh/Nos3tm1Plh mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:16390
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA neomycin cassette replaced exon 1. This exon encodes the initiation site and amino acids 1 - 159 of the protein. Northern blots of brain homogenates from homozygous mutant mice showed no detectable mRNA. Western blots of brain homogenates from homozygous mutant mice showed no detectable protein. However, splice variants are expressed and variable low levels of NOS activity are seen in the brain. (J:16390, J:31846, J:62375)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Nos1 Mutation:  11 strains or lines available
Mice homozygous for Nos1tm1Plh and Nos3tm1Plh display Phenotypic Similarity to Human Syndrome: hypertensive hypertrophic cardiomyopathy of the elderly (J:129064)

Original:  J:16390 Huang PL, et al., Targeted disruption of the neuronal nitric oxide synthase gene. Cell. 1993 Dec 31;75(7):1273-86
All:  233 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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