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

Symbol:	Ndptm1Wbrg
Name:	Norrie disease (pseudoglioma) (human); targeted mutation 1, Wolfgang Berger
MGI ID:	MGI:2676199
Synonyms:	Norrie
Gene:	Ndp  Location: ChrX:16751760-16778013 bp, - strand  Genetic Position: ChrX, 12.07 cM
Alliance:	Ndptm1Wbrg page

Germline Transmission:	Earliest citation of germline transmission: J:30902
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A 283 bp fragment spanning the coding portion of exon 2 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded 56 N-terminal amino acids. (J:30902)

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

In Structures Affected by this Mutation:

12 anatomical structure(s)

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 Ndp Mutation:	7 strains or lines available

Original:	J:30902 Berger W, et al., An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Hum Mol Genet. 1996 Jan;5(1):51-9
All:	19 reference(s)