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| Nomenclature |
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Symbol:
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Mks1hlb614
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Name:
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Meckel syndrome, type 1;
heart, lung and blood 614
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MGI ID: |
MGI:4887578 |
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Synonyms: |
Mks1del64-323 |
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Gene:
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Mks1
Location:
Chr11:87853215-87863803 bp, + strand
Genetic Position: Chr11,
52.24 cM
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Mutation
origin |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Intragenic deletion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Mks1 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
