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Otcspf
Radiation induced Allele Detail
Summary
Symbol: Otcspf
Name: ornithine transcarbamylase; sparse fur
MGI ID: MGI:1856178
Synonyms: spf
Gene: Otc  Location: ChrX:10118584-10187275 bp, + strand  Genetic Position: ChrX, 4.66 cM, cytoband A1
Alliance: Otcspf page
Otcspf/Otcspf

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

Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Radiation induced (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsA C to A missense transversion mutation in exon 4 changes a histidine to asparagine (H117N), creating a hypomorphic allele. About 10% of normal liver enzyme activity remains in mutant mice. (J:8786)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 9 strains available      Cell Lines: 0 lines available
Carrying any Otc Mutation:  22 strains or lines available
References
Original:  J:26975 Cupp MB, Sparse-fur, Sf. Mouse News Lett. 1958;19:37
All:  33 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory