Cd2ap<tm1Shaw> Targeted Allele Detail MGI Mouse (MGI:2664945)

Cd2ap^tm1Shaw
Targeted Allele Detail

Summary

Symbol:	Cd2ap^tm1Shaw
Name:	CD2-associated protein; targeted mutation 1, Andrey S Shaw
MGI ID:	MGI:2664945
Synonyms:	Cd2ap-
Gene:	Cd2ap Location: Chr17:43103842-43187556 bp, - strand Genetic Position: Chr17, 19.67 cM
Alliance:	Cd2ap^tm1Shaw page

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 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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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:	51 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:	37 reference(s)

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