B10;TFLe-a/a T Itpr3^tf/+ Itpr3^tf/J

Stock number: 003879
Research areas: Dermatology Research, Developmental Biology Research

Detailed description

This strain carries the brachyury allele (Tand the spontaneous Itpr3^tf mutation, derived from the now extinct TF/Le strain, and is characterized by tail defects, hair loss and regrowth.

Allele

Symbol: Itpr3^tf
Name: tufted
MGI accession ID: MGI:1857070
Generation method: Spontaneous
Synonyms: tf
Marker symbol: Itpr3
Marker name: inositol 1,4,5-triphosphate receptor 3
Marker synonyms: CMT1J; IP3R; Ip3r3; IP3R-3; IP3R3X; Itpr-3; tf
Chromosome: 17
Strain of origin: BTBR
Molecular note: Complementation mapping was used to demonstrate that this spontaneous mutation was an allele of Itpr3. Sequencing revealed a 12 bp deletion in Exon23 (Chr17: 27238069, Build 38.1) which codes for amino acids 983-986. This mutation arose early in the history of the BTBR strain (in or soon after 1956) and is not found in 18 other strains (129P2/OlaHsd, 129S1/SvImJ, 129S5/SvEvBrd, A/J, AKR/J, BALB/cJ, C3H/HeJ, C57BL/6NJ, CAST/EiJ, CBA/J, DBA/2J, FVB/NJ, LP/J, NOD/ShiLtJ, NZO/HlLtJ, PWK/PhJ, SPRET/EiJ and WSB/EiJ)
General note: This allele was recovered from a Harwell testing stock carrying multiple recessive markers in an undefined background. (J:273)

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: T
Name: brachyury
MGI accession ID: MGI:1856184
Generation method: Spontaneous
Synonyms: T1
Marker symbol: T
Marker name: brachyury, T-box transcription factor T
Marker synonyms: Bra; SAVA; T1; Tbxt; TFT
Chromosome: 17
Strain of origin: Laboratory stock
Molecular note: Pulsed-field gel electrophoresis revealed an altered restriction fragment size consistent with a deletion of 160-200kb.