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Itpr3tf
Spontaneous Allele Detail
Nomenclature
Symbol: Itpr3tf
Name: inositol 1,4,5-triphosphate receptor 3; tufted
MGI ID: MGI:1857070
Synonyms: tf
Gene: Itpr3  Location: Chr17:27057304-27122223 bp, + strand  Genetic Position: Chr17, 13.68 cM
Itpr3tf/Itpr3tf

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

Mutation
origin
Strain of Origin:  BTBR
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsComplementation 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 19 strains available      Cell Lines: 0 lines available
Carrying any Itpr3 Mutation:  42 strains or lines available
Notes
This allele was recovered from a Harwell testing stock carrying multiple recessive markers in an undefined background. (J:273)
References
Original:  J:273 Lyon MF, Hereditary hair loss in the tufted mutant of the house mouse. J Hered. 1956;47:101-3
All:  46 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory