Otc^spf-ash
Spontaneous Allele Detail

Summary

• Symbol: Otc^spf-ash
• Name: ornithine transcarbamylase; abnormal skin and hair
• MGI ID: MGI:1856179
• Synonyms: spf-ash, spf^ash
• Gene: Otc Location: ChrX:10118584-10187275 bp, + strand Genetic Position: ChrX, 4.66 cM, cytoband A1
• Alliance: Otc^spf-ash page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A G-to-A missense transition of the last nucleotide of exon 4 changes an arginine to histidine (p.R129H) and results in inefficient mRNA splicing at this site, as well as at a site located 48 bases into the adjacent intron. This allele is hypomorphic; approximately 5-10% of wild-type hepatic enzyme activity is retained. (J:9817)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	31 assay results
In Structures Affected by this Mutation:	5 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:5476 Doolittle DP, et al., A new allele of the sparse fur gene in the mouse. J Hered. 1974 May-Jun;65(3):194-5
• All: 31 reference(s)