Otc^spf-J
Spontaneous Allele Detail

Summary

• Symbol: Otc^spf-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: Otc^spf-J page

Small size and coat abnormalities in Otc^spf-J/Y mice at 4 weeks of age disappear by 12 weeks of age

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

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This allele was identified from the results of a noncomplementation test with Otc^spf. 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

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)