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Cd2aptm1Shaw
Targeted Allele Detail
Nomenclature
Symbol: Cd2aptm1Shaw
Name: CD2-associated protein; targeted mutation 1, Andrey S Shaw
MGI ID: MGI:2664945
Synonyms: Cd2ap-
Gene: Cd2ap  Location: Chr17:42792951-42876665 bp, - strand  Genetic Position: Chr17, 19.67 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:57971
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cd2ap Mutation:  11 strains or lines available
Notes
Heterozygous mutant mice exhibit highly organized microtubular deposits in the mesangium which is characteristic in human immunotactoid glomerulopathy (J:84748).
References
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
All:  29 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory