Mks1<hlb614> Chemically induced Allele Detail MGI Mouse (MGI:4887578)

Mks1^hlb614
Chemically induced Allele Detail

Summary

Symbol:	Mks1^hlb614
Name:	MKS transition zone complex subunit 1; heart, lung and blood 614
MGI ID:	MGI:4887578
Synonyms:	Mks1^del64-323
Gene:	Mks1 Location: Chr11:87744041-87754629 bp, + strand Genetic Position: Chr11, 52.24 cM
Alliance:	Mks1^hlb614 page

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Intragenic deletion
		Mutation details: ENU mutagenesis induced a deletion of 5226 bases spanning intron 2 to intron 10. The predicted protein lacks amino acids 64 through 323. (J:167534)
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 Mks1 Mutation:	29 strains or lines available

References

Original:	J:167534 Cui C, et al., Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech. 2011 Jan;4(1):43-56
All:	1 reference(s)

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