| Primary Identifier | MGI:1857070 | Allele Type | Spontaneous |
| Gene | Itpr3 | Inheritance Mode | Recessive |
| Strain of Origin | BTBR | Is Recombinase | false |
| Is Wild Type | false |
| description | This allele was recovered from a Harwell testing stock carrying multiple recessive markers in an undefined background. (J:273) |
| molecularNote | 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) |
