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Cd2apem1Irgu
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Cd2apem1Irgu
Name: CD2-associated protein; endonuclease-mediated mutation 1, Indra R Gupta
MGI ID: MGI:6476759
Gene: Cd2ap  Location: Chr17:43103842-43187556 bp, - strand  Genetic Position: Chr17, 19.67 cM
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Insertion
 
Mutation detailsCRISPR/Cas9 technology generated a 4 bp insertion that causes a frameshift at S198. This mutation was identified in a family with childhood-onset focal segmental glomerulosclerosis. (J:294238)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cd2ap Mutation:  42 strains or lines available
References
Original:  J:294238 Takano T, et al., Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice. Kidney Int. 2019 Jan;95(1):57-61
All:  1 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
09/13/2022
MGI 6.21
The Jackson Laboratory