Cd2bp2^tm1.1Tbh
Targeted Allele Detail

Summary

• Symbol: Cd2bp2^tm1.1Tbh
• Name: CD2 cytoplasmic tail binding protein 2; targeted mutation 1.1, Tobias Huber
• MGI ID: MGI:6392026
• Synonyms: CD2BP2^flox
• Gene: Cd2bp2 Location: Chr7:126790832-126795222 bp, - strand Genetic Position: Chr7, 69.38 cM
• Alliance: Cd2bp2^tm1.1Tbh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:283435
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: An FRT-flanked neomycin resistance cassette with a 5' loxP site was inserted upstream of exon 1. An additional loxP site was inserted downsteam of exon 3. Flp-mediated recombination removed the selection cassette and left exons 1 through 3 floxed. (J:283435)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
Loading...
cn1	Cd2bp2^tm1.1Tbh/Cd2bp2^tm1.1Tbh Tg(T-cre)1Lwd/0	B6OlaHsd.Cg-Cd2bp2^tm1.1Tbh Tg(T-cre)1Lwd
cn2	Cd2bp2^tm1.1Tbh/Cd2bp2^tm1.1Tbh Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * CBA/J
cn3	Cd2bp2^tm1.1Tbh/Cd2bp2^tm1.1Tbh Tg(NPHS2-cre)295Lbh/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL
cn4	Cd2bp2^tm1.1Tbh/Cd2bp2^tm1.1Tbh Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL

Phenotypes:

Affected Systems	cn1	cn2	cn3	cn4
show or hide all annotated terms
cardiovascular system	√
abnormal vitelline vein morphology	√
hemorrhage	√
cellular		√	√
increased mesangial cell number			√
impaired macrophage phagocytosis		√
embryo	√
abnormal vitelline vein morphology	√
embryonic growth arrest	√
growth/size/body			√
weight loss			√
hematopoietic system		√
impaired macrophage phagocytosis		√
homeostasis/metabolism			√
increased urine protein level			√
immune system		√
impaired macrophage phagocytosis		√
mortality/aging	√		√	√
premature death			√
embryonic lethality during organogenesis, complete penetrance	√			√
renal/urinary system			√
increased mesangial cell number			√
increased urine protein level			√
podocyte foot process effacement			√
glomerulosclerosis			√
renal cast			√

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

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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 Cd2bp2 Mutation: 26 strains or lines available

References

• Original: J:283435 Albert GI, et al., The GYF domain protein CD2BP2 is critical for embryogenesis and podocyte function. J Mol Cell Biol. 2015 Oct;7(5):402-14
• All: 2 reference(s)