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)

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)