Mks1<krc> Chemically induced Allele Detail MGI Mouse (MGI:4410614)

About Help FAQ

Mks1^krc
Chemically induced Allele Detail

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

Summary

Symbol:	Mks1^krc
Name:	MKS transition zone complex subunit 1; kerouac
MGI ID:	MGI:4410614
Synonyms:	krc
Gene:	Mks1 Location: Chr11:87744041-87754629 bp, + strand Genetic Position: Chr11, 52.24 cM
Alliance:	Mks1^krc page

Mutation
origin

Strain of Origin:

C57BL/6

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		Mutation details: ENU induced a T to C transition in the splice donor site within intron 5 (c.515+6T>C) causing a 21 bp insertion with an inframe nonsense codon (E173Stop). The absence of wild-type transcript was confirmed by RT-PCR. The predicted protein is truncated after 172 of 561 amino acids prior to the B9 domain. (J:154075)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	33 assay results
In Structures Affected by this Mutation:	29 anatomical structure(s)

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:154075 Weatherbee SD, et al., A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet. 2009 Dec 1;18(23):4565-75
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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24