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Dp(2Csrp2bp-Dzank1)1Bra
Spontaneous Allele Detail
Nomenclature
Symbol: Dp(2Csrp2bp-Dzank1)1Bra
Name: duplication, Chr 2, Christopher A Bradfield 1
MGI ID: MGI:4830871
Synonyms: Dp(2)1Bra, PPCD1
Gene: Dp(2Csrp2bp-Dzank1)1Bra  Location: unknown  Genetic Position: Chr2, Syntenic
Eye abnormalities in Dp(2Csrp2bp-Dzank1)1Bra/0 mice

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:164007
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Spontaneous
Mutation:    Duplication
  Dp(2Csrp2bp-Dzank1)1Bra involves 3 genes/genome features (Csrp2bp, Zfp133-ps, Dzank1) View all
 
Mutation detailsA spontaneous mutation in the embryonic cell line containing Portm1Cbk duplicated the genomic region from between exons 7 and 8 of Csrp2bp to between exons 17 and 20 of Dzank1 (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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dp(2Csrp2bp-Dzank1)1Bra Mutation:  1 strain or line available
References
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)
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory