This coisogenic strain has a functional allele of Gpnmb. Homozygous mice do not develop the elevated intraocular pressure or glaucoma found in DBA/2J mice (Stock 000671), although they exhibit a mild iris stromal atrophy (ISA). This strain provides a genetically matched control for DBA/2J.Read More +
This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by three months of age.
This coisogenic strain has a functional allele of Gpnmb. Homozygous mice do not develop elevated intraocular pressure or glaucoma, although they exhibit a mild iris stromal atrophy (ISA). This strain provides a genetically matched control for DBA/2J (Stock No. 000671). The inbred strain DBA/2J is homozygous for the glaucoma-related GpnmbR150X and Tyrp1isa mutations.
The wildtype allele of Gpnmb is present in the mutant strain DBA/2J-Dtnbp1sdy/J. The sandy mutation occurred in 1983 prior to the appearance of the GpnmbR150X mutation in the The Jackson Laboratory DBA/2J production colony. To generate this strain, mice from DBA/2J-Dtnbp1sdy/J were crossed to "modern" DBA/2J mice, and progeny were selected for the Gpnmb wildtype allele. The wildtype allele was backcrossed to DBA/2J for a minimum of six generations. Dr. Simon John of The Jackson Laboratory provided the colony to the Repository in 2007.
|Allele Name||age related hearing loss 1|
|Allele Synonym(s)||Cdh23753A; mdfw|
|Gene Symbol and Name||Cdh23, cadherin 23 (otocadherin)|
|Gene Synonym(s)||4930542A03Rik; 4930542A03Rik; CDHR23; RIKEN cDNA 4930542A03 gene; USH1D; W; age related hearing loss 1; ahl; ahl; bob; bob; bobby; bus; bustling; mdfw; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf112; nmf181; nmf181; nmf252; nmf252; sals; sals; salsa; v; waltzer|
|Strain of Origin||multiple strains|
|Molecular Note||Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at nucleotide position 753 of Cdh23. This hypomorphic allele causes in frame skipping of exon 7, which is predicted to delete part of the 2nd and 3rd ectodomains, and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.|
|Allele Name||wild type|
|Allele Type||Not Applicable|
|Gene Symbol and Name||Gpnmb, glycoprotein (transmembrane) nmb|
|Gene Synonym(s)||DC-HIL; Dchil; Dchil; HGFIN; NMB; Osteoactivin; dendritic cell associated heparan sulfate proteoglycans dependent integrin ligand; ipd; iris pigment dispersion|
|Site of Expression||Iris of the eys.|
|Strain of Origin||Not Applicable|
|Allele Synonym(s)||C5-; C5-d; C5-def; C5-deficient; hco|
|Gene Symbol and Name||Hc, hemolytic complement|
|Gene Synonym(s)||C5; C5; C5D; C5a; C5b; CPAMD4; ECLZB; He; He|
|Strain of Origin||multiple strains|
|General Note|| |
This is an allele characteristic of various inbred mouse strains including the following: A/HeJ, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ
Hc was identified as a candidate gene for Abhr2 in a microarray analysis of lung mRNA from A/J, C3H/HeJ, and (A/J x C3H/HeJ)F1 x A/J backcross animals. Hc genotype shows statistically significant correlation to allergen-induced bronchial hyperresponsive phenotype. The A/J allele contains a 2 bp deletion resulting in deficient Hc mRNA and protein production and is associated with susceptibility to allergen-induced bronchial hyperresponsiveness. (J:108211)
|Molecular Note||A 2 base "TA" deletion at positions 62 and 63 of an 83 base pair exon near the 5' end of the gene is found in the following mouse strains: A/HeJ, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ. The consequence of this deletion is the creation of a stop codon starting four bases after the deletion. A truncated product of 216 amino acids is predicted as a result although contradictory reports exist that a larger pro-C5 protein may be synthesized. Nevertheless, macrophages from mouse strains carrying this allele do not secrete complement 5.|
When maintaining a live colony these mice can be bred as homozygotes.
When using the DBA/2J-Gpnmb+/SjJ mouse strain in a publication, please include JAX stock #007048 in your Materials and Methods section.
|Heterozygous for Gpnmb<+>|
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
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