About   Help   FAQ
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
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/19/2024
MGI 6.24
The Jackson Laboratory