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| Nomenclature |
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Symbol:
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Ndptm1Wbrg
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Name:
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Norrie disease (pseudoglioma) (human);
targeted mutation 1, Wolfgang Berger
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MGI ID: |
MGI:2676199 |
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Synonyms: |
Norrie |
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Gene:
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Ndp
Location:
ChrX:16885521-16911774 bp, - strand
Genetic Position: ChrX,
12.07 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:30902
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ndp Mutation:
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4 strains or lines available |
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| References |
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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
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All: |
14 reference(s)
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Analysis Tools
