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| Nomenclature |
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Symbol:
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Gucy2etm1Gar
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Name:
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guanylate cyclase 2e;
targeted mutation 1, David L Garbers
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MGI ID: |
MGI:2183212 |
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Synonyms: |
GC1 KO, GC-E -, RetGC1- |
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Gene:
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Gucy2e
Location:
Chr11:69218120-69237036 bp, - strand
Genetic Position: Chr11,
42.51 cM
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Ultrastructure of wild type and degenerative Gucy2etm1Gar/Gucy2etm1Gar cone outer segments
Show the 2 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:77627
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Parent Cell Line:
| SM1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin selection cassette replaced the 3' portion of exon 5 encoding the transmembrane domain. Western blot analysis of protein extracts obtained from eyecups showed an absence of encoded protein in homozygous mice. (J:77627)
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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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| References |
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Original: |
J:77627
Yang RB et al.,
"Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior."
J Neurosci 1999 Jul 15;19(14):5889-97
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All: |
12 reference(s)
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