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

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

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+

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A 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)

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

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 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 Ndp Mutation:	7 strains or lines available

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:	15 reference(s)