Fscn2^ahl8
Spontaneous Allele Detail

Summary

• Symbol: Fscn2^ahl8
• Name: fascin actin-bundling protein 2; age related hearing loss 18
• MGI ID: MGI:3807774
• Synonyms: Fscn2^R109H
• Gene: Fscn2 Location: Chr11:120252360-120258994 bp, + strand Genetic Position: Chr11, 84.08 cM
• Alliance: Fscn2^ahl8 page

Mutation origin

• Strain of Origin: DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Nucleotide substitutions
• Mutation details: G 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

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: 39 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)