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| Nomenclature |
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Symbol:
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Dp(2Csrp2bp-6330439K17Rik)1Bra
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Name:
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duplication, Chr 2, Christopher A Bradfield 1
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MGI ID: |
MGI:4830871 |
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Synonyms: |
Dp(2)1Bra, PPCD1 |
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Gene:
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Dp(2Csrp2bp-6330439K17Rik)1Bra
Location:
unknown
Genetic Position: Chr2,
Syntenic
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Eye abnormalities in Dp(2Csrp2bp-6330439K17Rik)1Bra/0 mice
Show the 3 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:164007
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Duplication |
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Mutation details: A spontaneous mutation in the embryonic cell line containing Portm1Cbk duplicated the genomic region from betwen exons 7 and 8 of Csrp2bp to between exons 17 and 20 of 6330439K17Rik. This region also contains Zfp133-ps. Quantitative RT-PCR confirmed the decreased transcript expression of the genes on either extreme of the duplicated segment in eye extracts at days 16 and 28. (J:164007)
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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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| References |
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Original: |
J:164007
Shen AL et al.,
"The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene."
PLoS One 2010;5(8):
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All: |
1 reference(s)
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