These sedc mice carry a spontaneous mutation at the Col2a1 locus characterized by small body size and head bobbing. They are suitable for use in applications related to molecular and biological studies of bone development and pathology.Read More +
Newborn homozygotes are smaller than normal, have a shortened trunk, and often display head bobbing. Decreased body weight persists into adulthood, and the noses, trunks, tails, skulls, and long bones of adults are shortened relative to those of normal siblings. Abnormal epiphyses, with dysplasia of the vertebrae, femora, and tibias are found. Although light microscopy failed to detect any abnormalities in the inner ear, the head bobbing characteristic accompanying this mutation is usually associated with inner ear defects. Auditory brainstem response threshold analysis of 10-15 week old homozygotes does show hearing impairment. Clefts develop between the inner and outer aspects of the inner nuclear layer of the retina (retinoschisis).
The sedc mutation arose spontaneously in the C57BL/6J segment of chromosome 15 in a mixed background comprised of C57BL/6J, C3H/HeJ and AKR/J. It has been maintained on this STOCK background by breeding a homozygous female or male with a heterozygous sibling of the opposite sex. In 2004 the strain STOCK Col2a1sedc/J (#003907) reached F22. The sedc mutation was also backcrossed to C57BL/6J and in 2004 B6(Cg)-Col2a1sedc/J (#003916) reached N10F1.
|Allele Name||spondyloepiphyseal dysplasia congenita|
|Gene Symbol and Name||Col2a1, collagen, type II, alpha 1|
|Strain of Origin||Mixed stock|
|Molecular Note||Sequence analysis identified a point mutation in exon 49 that changed codon 1124 from CGC to TGC, resulting in substitution of arginine with cysteine (p.Arg1124Cys).|
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