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Ndptm1Wbrg
Targeted Allele Detail
Nomenclature
Symbol: Ndptm1Wbrg
Name: Norrie disease (pseudoglioma) (human); targeted mutation 1, Wolfgang Berger
MGI ID: MGI:2676199
Synonyms: Norrie
Gene: Ndp  Location: ChrX:16885521-16911774 bp, - strand  Genetic Position: ChrX, 12.07 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:30902
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 13 anatomical structures
Find Mice (IMSR)
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:  5 strains or lines available
References
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:  17 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
10/15/2019
MGI 6.14
The Jackson Laboratory