Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | Notes | References

Symbol: Itpr3tf Name: inositol 1,4,5-triphosphate receptor 3; tufted MGI ID: MGI:1857070 Synonyms: tf Gene: Itpr3  Location: Chr17:27276278-27341197 bp, + strand  Genetic Position: Chr17, 13.68 cM Alliance: Itpr3tf page

Itpr3tf/Itpr3tf Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

BTBR

Allele Type:    Spontaneous Mutation:    Intragenic deletion   Mutation details: 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) (J:188251, J:201643) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	18 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 anatomical structure(s)

List all tumor models in MMHCdb carrying Itpr3tf

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 20 strains available      Cell Lines: 0 lines available
Carrying any Itpr3 Mutation:	174 strains or lines available

Original:	J:273 Lyon MF, Hereditary hair loss in the tufted mutant of the house mouse. J Hered. 1956;47(2):101-3
All:	46 reference(s)