About   Help   FAQ
Ndptm2Nat
Targeted Allele Detail
Summary
Symbol: Ndptm2Nat
Name: Norrie disease (pseudoglioma) (human); targeted mutation 2, Jeremy Nathans
MGI ID: MGI:4414794
Synonyms: Ndp-
Gene: Ndp  Location: ChrX:16751760-16778013 bp, - strand  Genetic Position: ChrX, 12.07 cM
Alliance: Ndptm2Nat page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:154020
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA loxP site was inserted upstream of the start codon, and a stop codon followed by a PGK-neomycin resistance cassette was placed in-frame at codon 123, inadvertently truncating the last 11 amino acids. The mutation was created in ((129X1/SvJ x 129S1/Sv)F1-Kitl+) - derived R1/E embryonic stem (ES) cells. (J:154020)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 2 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 Ndp Mutation:  8 strains or lines available
Notes
ES cell line = R1/E.
References
Original:  J:154020 Ye X, et al., Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization. Cell. 2009 Oct 16;139(2):285-98
All:  16 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory