129P4.Cg-Axin1^Fu/J

Stock number: 000212
Research areas: Cell Biology Research, Developmental Biology Research, Neurobiology Research, Research Tools, Sensorineural Research, Virology Research

Detailed description

The fused mutation is dominant and generally more severe in homozygotes, but has highly varying penetrance in both the heterozygote and homozygote, to the extent that some homozygotes do not have an abnormal phenotype. Phenotypic traits of mice carrying the Axin1^Fu allele include shortened, bifurcated, or absent tails, kinked tails with fused vertebrae, other asymmetrical fusions of vertebrae, axial duplications, and ribs fused at the proximal ends. Imperforate anus, anemia at birth, waltzing movement, deafness, and missing or abnormal kidneys have also been reported. Both heterozygotes and homozygotes are generally fertile although female carriers transmit with a lower penetrance than males do. (Reed, 1936; Dunn and Gluecksohn-Waelsch, 1954; Theiler and Gluecksohn-Waelsch, 1956.)

Development

Fused (Axin1^Fu) arose in stocks at the Bussy Institute at Harvard prior to 1931. It was first maintained at The Jackson Laboratory by Dr. Leroy Stevens in 1958 on a 129 background. It was then taken by Dr. Meredith Runner and maintained on the 129RrDg background to N31 in 1967. During this time it was bred by backcrossing a fused heterozygous male to a 129RrDg female. In 1967 the stock was maintained by Dr. Margaret Green, and was inbred by mating a heterozygous affected male to a normal non-fused female sibling. It was cryopreserved in 1985 by mating heterozygous expressing males to +/+ females or vice versa at N31F55.

Allele

Symbol: Axin1^Fu
Name: fused
MGI accession ID: MGI:1856035
Generation method: Spontaneous
Synonyms: Fu; T^f
Marker symbol: Axin1
Marker name: axin 1
Marker synonyms: Axin; axin-1; CMDOH; PPP1R49
Chromosome: 17
Strain of origin: Bussey Institution stock
Molecular note: The mutation is an IAP retrotransposon insertion within the sixth intron that results in the production of wild-type transcripts as well as mutant transcripts that initiate at both the authentic promoter and the 3'-most long terminal repeat of the insertion.
General note: Gametic imprinting has been detected for Axin1^Fu (J:11139), and the locus may be affected by inherited inactivation (J:6577). Penetrance is affected by the genetic background, although expressivity is not. A suppressor gene in C57BL/6 decreases the penetrance of Axin1^Fu in hybrids (J:11139). The suppressor gene did not affect penetrance of Axin1^Fu in mice chimeric between C57BL/6 and a stock carrying Axin1^Fu (J:19657).