B6.129S1-(rs13480546-rs13480629)/Kjn

Stock number: 021479
Research areas: Neurobiology Research, Sensorineural Research

Description

The 129S1/SvImJ-derived congenic interval in this strain includes the dominant Cdh23^Ahl+ wild-type allele and the recessive Mahl^129S1/SvImJ QTL from 129S1/SvImJ backcrossed onto C57BL/6J and bred to homozygosity. This results in a predominantly C57BL/6J strain lacking the phenotype from the age related hearing loss mutation.

Detailed description

The 129S1/SvImJ-derived congenic interval in this strain includes the dominant Cdh23^Ahl+ wild-type allele and the recessive Mahl^129S1/SvImJ QTL from 129S1/SvImJ backcrossed onto C57BL/6J and bred to homozygosity. The cochlear hair cell loss and increased ABR thresholds that occur in C57BL/6J mice are not found in this congenic.

Development

A segment of Chromosome 10 containing the wild-type allele of Cdh23^ahl was backcrossed from 129S1/SvImJ onto the C57BL/6J background for 10 generations and then bred to homozygosity through sibling intercrossing. The proximal breakpoint of the fixed congenic interval is between rs3665690 and rs13480546 and the distal breakpoint is between rs13480629 and rs13480646.

Allele

Symbol: Cdh23^Ahl+
Name: wild-type of age related hearing loss
MGI accession ID: MGI:2665714
Generation method: Not Applicable
Marker symbol: Cdh23
Marker name: cadherin 23 (otocadherin)
Chromosome: 10
Strain of origin: CAST/EiJ
Molecular note: This variant of the SNP rs257098870 allele contrasts with the variant of the allele found in C57BL/6J in that a G is present at coding nucleotide position 753 rather than an A. Thus, the G-GT splice donor site is maintained.

Allele

Symbol: Mahl^129S1/SvImJ
Name: 129S1/SvImJ
MGI accession ID: MGI:5898321
Generation method: QTL
Marker symbol: Mahl
Marker name: modifier of age related hearing loss
Chromosome: 10
Strain of origin: 129S1/SvImJ
Molecular note: In the homozygous state this allele intensifies the hair cell loss and hearing loss caused by the age related hearing loss mutation on the 129S1 background