B6C3Fe a/a-Ptch1^mes/J

Stock number: 001430
Product name: mesenchymal dysplasia
Research areas: Dermatology Research, Developmental Biology Research, Reproductive Biology Research

Description

These mice carry a spontaneous mutation at the Ptch1 locus characterized by excess skin, increased body weight, and mild preaxial polydactyly.

Detailed description

Mice homozygous for the mesenchymal dysplasia spontaneous mutation (mes) have a shortened face, wide set eyes, excessive skin, belly spot, kinked tail, preaxial polydactyly, and thickened foot pads. Homozygous mutant mice also display mineralization of tendons and multiple skeletal defects. Both sexes are infertile. Male mice have cryptorchid testes.

Development

The mesenchymal dysplasia (mes) mutation arose spontaneously in 1981 on the CBA/J background at The Jackson Laboratory. Due to the sterility in homozygotes this mutation was maintained by cross-intercross breeding using ovarian transplantation from homozygous females and breeding the host females with B6C3Fe-a/a males then intercrossing their heterozygous offspring to generate homozygous females for ovarian transplantation (Sweet HO; Bronson RT, 1981). In 2004 this colony reached generation N40F1.

Allele

Symbol: a
Name: nonagouti
MGI accession ID: MGI:1855937
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Marker synonyms: agouti; agouti signal protein; AGSW; AGTI; AGTIL; As; ASP; SHEP9
Chromosome: 2
Strain of origin: old mutant of the mouse fancy
Molecular note: Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.
General note: Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039

Allele

Symbol: Ptch1^mes
Name: mesenchymal dysplasia
MGI accession ID: MGI:1856954
Generation method: Spontaneous
Synonyms: mes; Ptc^mes
Marker symbol: Ptch1
Marker name: patched 1
Marker synonyms: A230106A15Rik; BCNS; BCNS1; NBCCS; Patched 1; PTC; PTC1; Ptch; Ptch2; wig
Chromosome: 13
Strain of origin: CBA/J
Molecular note: A 32bp deletion causes a frameshift mutation, which generates a truncated protein with an aberrant 68-amino acid stretch in the C terminal cytoplasmic domain.