Cryabtm1.1Ady
Targeted Allele Detail
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Symbol: |
Cryabtm1.1Ady |
Name: |
crystallin, alpha B; targeted mutation 1.1, Usha P Andley |
MGI ID: |
MGI:4999580 |
Synonyms: |
alphaB-R120G |
Gene: |
Cryab Location: Chr9:50662625-50667936 bp, + strand Genetic Position: Chr9, 27.75 cM
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Alliance: |
Cryabtm1.1Ady page
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Eye and lens abnormalities in Cryabtm1.1Ady/Cryab+ and Cryabtm1.1Ady/Cryabtm1.1Ady mice
Show the 2 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:171679
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Parent Cell Line: |
SCC10 (ES Cell)
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Strain of Origin: |
129X1/SvJ
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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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 120 (R120G), mimicking a mutation associated with cataracts and desmin-related myopathy (DRM) in humans. Cre-mediated recombination removed the floxed neo cassette inserted downstream of the modified exon 3.
(J:171679)
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Generation of the Cryabtm1.1Ady allele |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Cryab Mutation: |
12 strains or lines available
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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 |
All: |
9 reference(s) |
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