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| Nomenclature |
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Symbol:
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Clrn1tm2.1Kuna
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Name:
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clarin 1;
targeted mutation 2.1, Kumar N Alagramam
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MGI ID: |
MGI:5432130 |
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Synonyms: |
Clrn1N48K |
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Gene:
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Clrn1
Location:
Chr3:58844028-58885340 bp, - strand
Genetic Position: Chr3,
28.78 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:186316
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129 and C57BL/6J
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Exon 1 was replaced with one in which a point mutation (C to G) results in the amino acid substitution of lysine for asparagine (N48K). The floxed neo cassette inserted downstream of the modified exon 1 was removed by cre mediated recombination. (J:186316)
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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 Clrn1 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:186316
Geng R et al.,
"The Mechanosensory Structure of the Hair Cell Requires Clarin-1, a Protein Encoded by Usher Syndrome III Causative Gene."
J Neurosci 2012 Jul 11;32(28):9485-9498
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All: |
1 reference(s)
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Analysis Tools
