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| Nomenclature |
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Symbol:
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Cd2aptm1Shaw
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Name:
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CD2-associated protein;
targeted mutation 1, Andrey S Shaw
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MGI ID: |
MGI:2664945 |
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Synonyms: |
Cd2ap- |
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Gene:
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Cd2ap
Location:
Chr17:42792951-42876424 bp, - strand
Genetic Position: Chr17,
19.67 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:57971
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Parent Cell Line:
| RW-4 (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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The sequences encoding the first SRC homology 3 domain was replaced with a neomycin-resistance gene. Immunoblots of kidney, liver, spleen, and thymus proteins from homozygous mice indicated the absence of gene product. (J:57971)
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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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Notes |
Heterozygous mutant mice exhibit highly organized microtubular deposits in the mesangium which is characteristic in human immunotactoid glomerulopathy (J:84748).
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| References |
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Original: |
J:57971
Shih NY et al.,
"Congenital nephrotic syndrome in mice lacking CD2-associated protein [see comments]"
Science 1999 Oct 8;286(5438):312-5
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All: |
14 reference(s)
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Analysis Tools
