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Mks1hlb614
Chemically induced Allele Detail
Nomenclature
Symbol: Mks1hlb614
Name: Meckel syndrome, type 1; heart, lung and blood 614
MGI ID: MGI:4887578
Synonyms: Mks1del64-323
Gene: Mks1  Location: Chr11:87853215-87863803 bp, + strand  Genetic Position: Chr11, 52.24 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Intragenic deletion
 
Mutation detailsENU 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 24 anatomical structures
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:  3 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory