Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Otcspf-J Name: ornithine transcarbamylase; sparse fur Jackson MGI ID: MGI:1856372 Gene: Otc  Location: ChrX:10118584-10187275 bp, + strand  Genetic Position: ChrX, 4.66 cM, cytoband A1 Alliance: Otcspf-J page

Small size and coat abnormalities in Otcspf-J/Y mice at 4 weeks of age disappear by 12 weeks of age Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

C57BL/6J

Allele Type:    Spontaneous (Hypomorph) Mutation:    Single point mutation   Mutation details: This allele was identified from the results of a noncomplementation test with Otcspf. A missense mutation was identified, with a c.240A>T transversion in exon 3, leading to a lysine to asparagine substitution (p.K80N). The K80 residue is located outside the carbamoyl phosphate and ornithine binding regions. qRT-PCR confirmed similar levels of hepatic mRNA in heterozygous females and hemizygous males as in wild-type mice, while Western blot showed drastically reduced hepatic protein levels. Otc enzyme activity is 10-12% of wild-type levels. (J:226209) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Otc Mutation:	22 strains or lines available

Original:	J:30778 Sweet HO, et al., Remutations at The Jackson Laboratory (Update to Mouse Genome 1993; 91:862-5 - J16313). Mouse Genome. 1995;93(4):1030-4
All:	2 reference(s)