Dst<dt-23Rbrc> Spontaneous Allele Detail MGI Mouse (MGI:6119708)

Dst^dt-23Rbrc
Spontaneous Allele Detail

Summary

Symbol:	Dst^dt-23Rbrc
Name:	dystonin; dystonia musculorum 23 RIKEN BioResource Center
MGI ID:	MGI:6119708
Synonyms:	dt^23Rbrc
Gene:	Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
Alliance:	Dst^dt-23Rbrc page

Mutation
origin

Strain of Origin:

C57BL/6

Mutation
description

Allele Type:		Spontaneous (Hypomorph)
Mutation:		Nucleotide substitutions
		Mutation details: This spontaneous mutation was established at RIKEN Bioresource Center in 2001. A nonsense mutation within the spectrin repeats of its plakin domain was identified in exon 27, leading to premature stop codon. (J:251779)
Inheritance:		Recessive

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available Cell Lines: 0 lines available
Carrying any Dst Mutation:	557 strains or lines available

References

Original:	J:251779 Horie M, et al., Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality. Neurobiol Dis. 2016 Dec;96:271-283
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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