Itpr1<m1Asb> Spontaneous Allele Detail MGI Mouse (MGI:3715928)

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Itpr1^m1Asb
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Summary

Symbol:	Itpr1^m1Asb
Name:	inositol 1,4,5-trisphosphate receptor 1; mutation 1, Andrew B Singleton
MGI ID:	MGI:3715928
Synonyms:	Itpr1^delta18
Gene:	Itpr1 Location: Chr6:108190057-108528070 bp, + strand Genetic Position: Chr6, 49.74 cM
Alliance:	Itpr1^m1Asb page

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		These mice carry an in-frame 18 base pair deletion in exon 36. (J:122793)

Phenotypes

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

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Itpr1 Mutation:	184 strains or lines available

References

Original:	J:122793 van de Leemput J, et al., Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans. PLoS Genet. 2007 Jun 22;3(6):e108
All:	2 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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