TF/GnLe-T(1;17)190Ca +/+ Itpr3^tf/J

Stock number: 000588
Product name: T190Ca
Research areas: Dermatology Research, Research Tools

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

MGI accession ID: MGI:103663
Marker symbol: T(1;17)190Ca
Marker name: reciprocal translocation, Chr 1 and 17, Carter 190
Marker synonyms: T190Ca
Chromosome: 17