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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
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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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory