Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Notch2tm1Grid
Name:	notch 2; targeted mutation 1, Tom Gridley
MGI ID:	MGI:1933205
Synonyms:	Notch2-, Notch2del1
Gene:	Notch2  Location: Chr3:97920854-98057683 bp, + strand  Genetic Position: Chr3, 42.42 cM
Alliance:	Notch2tm1Grid page

Germline Transmission:	Earliest citation of germline transmission: J:67157
Parent Cell Line:	CJ7 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Hypomorph) Mutations:    Insertion, Intragenic deletion   Mutation details: This is a hypomorphic allele. A neomycin resistance cassette replaced 0.4 kb of sequence, including part of the exon encoding EGF repeat 14, the splice donor site at the 3' end of this exon, and 0.3 kb of intron. mRNA species are detected in homozygous mutant embryos that appear to be the result of inframe splicing around the neomycin cassette. Proteins derived from these transcripts are predicted to have a deletion of one or two EGF repeats. (J:67157)

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

In Mice Carrying this Mutation:	38 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

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 Notch2 Mutation:	97 strains or lines available

Original:	J:67157 McCright B, et al., Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation. Development. 2001 Feb;128(4):491-502
All:	8 reference(s)