Itpr3^tf
Spontaneous Allele Detail

Summary

• Symbol: Itpr3^tf
• 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: Itpr3^tf page

Itpr3^tf/Itpr3^tf

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

Mutation origin

• Strain of Origin: BTBR

Mutation description

• 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

Disease models

Expression

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

Tumor Data

List all tumor models in MMHCdb carrying Itpr3^tf

Find Mice (IMSR)

• 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: 176 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(2):101-3
• All: 46 reference(s)