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Fscn2ahl8
Spontaneous Allele Detail
Summary
Symbol: Fscn2ahl8
Name: fascin actin-bundling protein 2; age related hearing loss 18
MGI ID: MGI:3807774
Synonyms: Fscn2R109H
Gene: Fscn2  Location: Chr11:120252360-120258994 bp, + strand  Genetic Position: Chr11, 84.08 cM
Alliance: Fscn2ahl8 page
Mutation
origin
Strain of Origin:  DBA/2J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Nucleotide substitutions
 
Mutation detailsG to A transition located in exon 1 and is of predicted to cause a nonsynonymous amino acid change of arginine to histidine at position 109 (R109H). The known genealogy of the DBA-related strains and genotyping analysis of archived DBA/2J DNA samples indicate that this allele occurred in the DBA/2J lineage between 1951 (when it was separated from the DBA/2N lineage) and 1975. (J:139223, J:162868)
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: 3 strains available      Cell Lines: 0 lines available
Carrying any Fscn2 Mutation:  37 strains or lines available
Notes
ahl8 interacts with Cdh23 on chromosome 10.
References
Original:  J:139223 Johnson KR, et al., A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. Genomics. 2008 Oct;92(4):219-25
All:  7 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
03/12/2024
MGI 6.23
The Jackson Laboratory