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| Nomenclature |
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Symbol:
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Cryabtm1.1Ady
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Name:
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crystallin, alpha B;
targeted mutation 1.1, Usha P Andley
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MGI ID: |
MGI:4999580 |
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Synonyms: |
alphaB-R120G |
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Gene:
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Cryab
Location:
Chr9:50752758-50756633 bp, + strand
Genetic Position: Chr9,
27.75 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:171679
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Parent Cell Line:
| SCC10 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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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 3 was replaced with one in which an A to G transition results in the amino acid transition of arginine to glycine at position 170 (R170G). Cre-mediated recombination removed the floxed neo cassette inserted downstream of the modified exon 3. (J:171679)
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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 Cryab Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:171679
Andley UP et al.,
"A knock-in mouse model for the R120G mutation of alphaB-crystallin recapitulates human hereditary myopathy and cataracts."
PLoS One 2011;6(3):e17671
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All: |
1 reference(s)
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Analysis Tools
