C(TSJ)-Rpl38^Ts/GrsrJ

Stock number: 011114
Product name: tail-short
Research areas: Developmental Biology Research, Hematological Research

Description

Heterozygous mice exhibit skeletal abnormalities. Homozygous mice die early in embryonic development.

Detailed description

Homozygosity for the tail short mutation causes early embryonic lethality. Heterozygotes are smaller than normal and have variably shortened tails with flexures. Skeletal abnormalities are found with varying expressivity including vertebral fusions, bilateral asymmetry of the length of the humerus and tibia, triphalangy of digit 1 of the forefoot, an extra pair of ribs, and craniofacial defects. Embryonic anemia and reduced fertility are also found.

Development

The Ts mutation arose spontaneously in 1946 at the National Cancer Institute in BALB/c (strain C of the Bagg albino strain) when that inbred was at generation F63. W.C. Morgan gave this mutant subline to George Snell at The Jackson Laboratory in 1950 and Snell outcrossed it to C57BL/6, C57BR/a, and BALB/cSn before inbreeding began on this new background and the line was transferred to Skippy Lane. The TSJ/Le inbred reached generation F41 in 1979 and F130 in 2007. When this inbred reached generation F132 it was backcrossed repeatedly to BALB/cJ and in 2010 sperm was cryopreserved from males heterozygous for Ts and Tyr^c and homozygous for Tyrp1^b then at generation N4. Cryorecovery using BALB/cJ females for in vitro fertilization has proven successful.

Allele

Symbol: Rpl38^Ts
Name: tail-short
MGI accession ID: MGI:1861228
Generation method: Spontaneous
Synonyms: T-s
Marker symbol: Rpl38
Marker name: ribosomal protein L38
Chromosome: 11
Strain of origin: BALB/c
Molecular note: An 18,189 kb region (from position 114,517 - 114,536 kb) was deleted and replaced with a 657 bp insertion showing high sequence similarity to the gag/pro-pol-dUTPase genes of the endogenous retrovirus MuERV-L. This deletion encompasses all of the exons of Rpl38.