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.
Dr. Ken Johnson, JAX
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous (Not Specified) | Cs | citrate synthase |
Marker Symbol | Marker Name | |
---|---|---|
D10Utsw1 | DNA segment, Chr 10, University of Texas Southwestern 1 |
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.
F1 offspring of C57BL/6J-Chr 10A/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 Name | age related hearing loss 4 |
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Allele Type | Spontaneous (Not Specified) |
Allele Synonym(s) | Csahl4-A/J; Csrs29358506-A |
Gene Symbol and Name | Cs, citrate synthase |
Gene Synonym(s) | |
Strain of Origin | A/J |
Chromosome | 10 |
General Note | This mutation likely occurred in the A/J lineage between 1928 and 1975. J:188196 |
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. |
Marker Synonym(s) | |
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Chromosome(s) | 10 |
When using the B6.A-(rs3676616-D10Utsw1)/Kjn mouse strain in a publication, please cite the originating article(s) and include JAX stock #014192 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for (rs3676616-D10Utsw1) |
Frozen Mouse Embryo | B6.A-(rs3676616-D10Utsw1)/Kjn Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.A-(rs3676616-D10Utsw1)/Kjn Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.A-(rs3676616-D10Utsw1)/Kjn Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.A-(rs3676616-D10Utsw1)/Kjn Frozen Embryo | $3373.50 |
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