B6.A-(rs3676616-D10Utsw1)/Kjn

Stock number: 014192

Description

This strain is congenic for a segment of distal Chromosome 10 bearing the A/J derived age related hearing loss 4 (ahl4) mutation in citrate synthase and is useful for studies of hearing, mitochondrial regulation and energy metabolism.

Detailed description

This strain is congenic for a segment of distal Chromosome 10 bearing the age related hearing loss 4 (ahl4) mutation from A/J, which is a point mutation in the Cs gene. The ABR threshold average at 6 months of age was reported to be of 37.7 at 16 kHz, and at 9 months of age of 60 at 8 kHz, and 65 at 16 kHz, each significantly higher than that of C57BL/6J or heterozygotes.

Development

F1 offspring of C57BL/6J-Chr 10^A/J/NaJ x C57BL/6J were backcrossed further to C57BL/6J and the N2 generation was genotyped for markers along the length of Chromosome 10. The congenic interval with the proximal marker rs3676616 and the distal marker D10Utsw1, which includes ahl4, was then fixed homozygous by sibling intercrossing and the strain has been maintained this way ever since.

Allele

Symbol: Cs^ahl4
Name: age related hearing loss 4
MGI accession ID: MGI:3807581
Generation method: Spontaneous
Attributes: Not Specified
Synonyms: Cs^ahl4-A/J; Cs^rs29358506-A
Marker symbol: Cs
Marker name: citrate synthase
Marker synonyms: 2610511A05Rik; 9030605P22Rik; ahl4; Cis
Chromosome: 10
Strain of origin: A/J
Molecular note: 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.
General note: This mutation likely occurred in the A/J lineage between 1928 and 1975. J:188196

Allele

MGI accession ID: MGI:3590289
Marker symbol: D10Utsw1
Marker name: DNA segment, Chr 10, University of Texas Southwestern 1
Chromosome: 10