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| Nomenclature |
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Symbol:
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Chmtm1Jvdh
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Name:
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choroidermia;
targeted mutation 1, Jose A J M van den Hurk
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MGI ID: |
MGI:3052865 |
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Synonyms: |
Chm- |
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Gene:
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Chm
Location:
ChrX:113040595-113185517 bp, - strand
Genetic Position: ChrX,
48.94 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:40673
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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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Mutation: | |
Disruption caused by insertion of vector |
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Mutation details: Exon 8 was disrupted by the insertion of a neomycin resistance gene in the opposite transcriptional orientation to the endogenous gene. Southern blot confirmed recombination in ES cells. (J:40673)
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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 Chm Mutation:
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9 strains or lines available |
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| References |
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Original: |
J:40673
van den Hurk JA et al.,
"Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline."
Hum Mol Genet 1997 Jun;6(6):851-8
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All: |
2 reference(s)
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Analysis Tools
