Tbc1d20<bs> Spontaneous Allele Detail MGI Mouse (MGI:1856684)

Tbc1d20^bs
Spontaneous Allele Detail

Summary

Symbol:	Tbc1d20^bs
Name:	TBC1 domain family, member 20; blind-sterile
MGI ID:	MGI:1856684
Gene:	Tbc1d20 Location: Chr2:152135748-152155916 bp, + strand Genetic Position: Chr2, 74.83 cM, cytoband H1
Alliance:	Tbc1d20^bs page

Tbc1d20^bs/Tbc1d20^bs

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

Mutation
origin

Strain of Origin:

AKR/J

Mutation
description

Allele Type:		Spontaneous
Mutations:		Intragenic deletion, Single point mutation
		Mutation details: Positional cloning identified a c.691T>A substitution and c.692_703del deletion (in-frame p.Arg232_Val235 deletion) in exon 6, which togther result in p.Phe231_Val235delinsMet. Functional analysis indicates this is a loss of function mutation. (J:206668, J:222308)
Inheritance:		Recessive

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

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 Tbc1d20 Mutation:	20 strains or lines available

References

Original:	J:7104 Varnum DS, Blind-sterile: a new mutation on chromosome 2 of the house mouse. J Hered. 1983 May-Jun;74(3):206-7
All:	10 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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