This strain might be segregating for the recessive tufted (tf) mutation, also on Chromosome 17
Del(17)Thp is a 4 cM deletion that includes T, Qk, and Igf2r (Tme). The proximal breakpoint lies between D17Leh66E and D17Leh66EII and the distal breakpoint lies between D17Leh66D and D17Mit12. As with other T mutants, hemizygotes have a shortened tail and other axial skeleton defects, such as vertebral fusions and scoliosis, and homozygotes are embryonic lethal, but these homozygotes were reported by Bennett (1975) to die by E7, 3 days earlier than T/T homozygotes. Because the T-associated maternal effect (Tme) is part of this deletion, transmission of Del(17)Thp from the male produces pups with normal viability and a variably short or kinked tail while transmission from the female parent results in viable wildtype pups but embryonic lethallty of carrier pups, with the few that are stillborn being oedematous with short, kinky tails and postaxial polydactyly. This lethality traces to the maternally-derived pups themselves, not the maternal environment since no viable carrier pups are obtained from hemizygous females bred to wildtype males, a reasonable percentage of carrier pups are born from wildtype females bred to hemizygous males, with some embryonic loss occurring, and intercrosses of hemizygous males with hemizygous females yield some viable hemizygous pups and some oedematous stillborn pups with postaxial polydatyly and short, kinky tails. Tme was defined by Wutz et al. (2001) as Igf2r, a maternally expressed imprinted gene encoding a receptor for both insulin-like growth factor and mannose 6-phosphate.
When on a C57BL/6J Chr YAKR/J background Del(17)Thp hemizygotes have a high rate of sex-reversal, with XYAKR/J Del(17)Thp hemizygotes developing ovarian tissue or both ovarian and testicular tissue, but on the C3H/HeSnJ background testicular tissue develops even in the presence of the Chr YAKR/J with its variant Sry gene (Washburn et al., 1990; Bogani et al., 2009).
The Del(17)Thp multigenic deletion, formerly called Thp, arose spontaneously in AKR/J at The Jackson Laboratory. Because maternally imprinted Igf2r is in this deletion, this deletion cannot be transmitted from carrier females. Instead, the laboratory of Dr. Eva Eicher backcrossed this deletion onto the C3H/HeSnJ background by breeding from a carrier male bred to a C3H/HeSnJ female at each generation and thereby capturing the Chr Y
|Allele Name||deletion, Chr 17, T |
|Allele Synonym(s)||hairpin tail; Hp; THp|
|Gene Symbol and Name||Del(17)Thp, deletion, Chr 17, T |
|Strain of Origin||AKR/J|
|General Note||Because this allele arose in the AKR/J inbred strain and can only be transmitted to viable offspring via a male carrier, all Del(17)Thp strains carry the AKR Y Chromosome.|
|Molecular Note||Restriction length polymorphisms and simple sequence variants were used to define the breakpoints of the deletion that comprises this allele. The proximal breakpoint of the deletion maps between D17Leh66EI and D17Leh66EII and the distal breakpoint is proximal to D17Mit122 but distal to D17Leh66D. The Qk locus is included in the deletion.|
Thp/+ females can not transmit Thp. Although carrier females can bear carrier pups from carrier males, the carrier pups which inherit Thp from their mother die in utero.
When using the hairpin tail mouse strain in a publication, please cite the originating article(s) and include JAX stock #001053 in your Materials and Methods section.