B6;CBACa A^w-J/A-Npr2^cn-2J/GrsrJ

Stock number: 004200
Product name: achondroplasia 2 Jackson
Research areas: Developmental Biology Research, Reproductive Biology Research, Research Tools

Description

These mice carry a spontaneous mutation at the Npr2 locus characterized by abnormal bone development.

Detailed description

Mice carrying the Npr2^cn-2J display mutation short thick femurs, round heads, disorganized growth plates, and relatively normal vertebrae; A one month old female exhibited the same phenotype as above but also had splayed ribs.

Development

The achondroplasia 2 Jackson mutation arose spontaneously in the strain B6CBACa A^w-J/A-Kcnj6^wv/J (stock #000247)at The Jackson Laboratory in 1999 when that strain was at generation N60. This mutant subline has been maintained by cross-intercross breeding using B6CBA-A^w-J/A F1 as the outcross mates. This strain reached generation F20 in 2008 and after more than 10 generations without seeing phenotypic evidence of the Kcnj6^wv mutation it is believed to have been bred out.

Allele

Symbol: Npr2^cn-2J
Name: achondroplasia 2 Jackson
MGI accession ID: MGI:2152891
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Npr2
Marker name: natriuretic peptide receptor 2
Chromosome: 4
Strain of origin: B6;CBACa-A^w-J/A-Kcnj6^wv/+
Molecular note: This allele was identified from the results of a complementation test with Npr2^cn.

Allele

Symbol: A^w-J
Name: white bellied agouti Jackson
MGI accession ID: MGI:1855946
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Chromosome: 2
Strain of origin: C57BL/6J

Allele

Symbol: A
Name: wild-type agouti
MGI accession ID: MGI:1856464
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Chromosome: 2
Strain of origin: various
Molecular note: This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene.
General note: The A allele is usually regarded as a wild-type allele. For example,the C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.