Cs^ahl4
Spontaneous Allele Detail

Summary

• Symbol: Cs^ahl4
• Name: citrate synthase; age related hearing loss 4
• MGI ID: MGI:3807581
• Synonyms: Cs^ahl4-A/J, Cs^rs29358506-A
• Gene: Cs Location: Chr10:128173603-128198348 bp, + strand Genetic Position: Chr10, 76.53 cM
• Alliance: Cs^ahl4 page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: The C-to-A nucleotide change in exon 3 of A/J (SNP rs29358506) mice causes a nonconservative amino acid change, from histidine (H) to asparagine (N) at position 55 of the protein (p.H55N). This histidine is highly conserved in the orthologous proteins of all mammals and in many other species indicating that it is likely to be functionally important. A/WySnJ and A/HeJ contain a C at this SNP. (J:188196)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Cs Mutation: 35 strains or lines available

Notes

This mutation likely occurred in the A/J lineage between 1928 and 1975. J:188196

References

• Original: J:139222 Zheng QY, et al., A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice. Neurobiol Aging. 2009 Oct;30(10):1693-705
• All: 2 reference(s)