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Csahl4
Spontaneous Allele Detail
Summary
Symbol: Csahl4
Name: citrate synthase; age related hearing loss 4
MGI ID: MGI:3807581
Synonyms: Csahl4-A/J, Csrs29358506-A
Gene: Cs  Location: Chr10:128173603-128198348 bp, + strand  Genetic Position: Chr10, 76.53 cM
Alliance: Csahl4 page
Mutation
origin
Strain of Origin:  A/J
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThe 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  34 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)

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)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory