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| Nomenclature |
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Symbol:
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Tg(Rho-GUCA1A*Y99C)L53Amd
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Name:
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transgene insertion L53, Alexander M Dizhoor
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MGI ID: |
MGI:4430086 |
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Synonyms: |
Y99C GCAP1 |
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Transgene:
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Tg(Rho-GUCA1A*Y99C)L53Amd
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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C57BL/6 x DBA/2
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: The mouse promoter drives rod and cone-specific expression of the bovine cDNA containing a mutation that results in an amino acid substitution of cysteine for tyrosine at position 99 (Y99C). This mutation is found in human patients with late-onset retinal dystrophy. Several lines were created (L52, L52H, L53, L36, L39, L128, and L52X). Line L53 exhibit a 3- to 4-fold in expression compared to endogenous levels. (J:157063)
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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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| References |
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Original: |
J:157063
Olshevskaya EV et al.,
"The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice."
J Neurosci 2004 Jul 7;24(27):6078-85
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All: |
3 reference(s)
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Analysis Tools
