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Ppcd1
Spontaneous Allele Detail
Nomenclature
Symbol: Ppcd1
Name: posterior polymorphous corneal dystrophy 1
MGI ID: MGI:4830871
Synonyms: Dp(2)1Bra, Dp(2Csrp2bp-Dzank1)1Bra
Gene: Ppcd1  Location: unknown  Genetic Position: Chr2, Syntenic
Eye abnormalities in Ppcd1/0 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 (Null/knockout)
Mutations:    Intergenic deletion, Inversion
  Ppcd1 involves 3 genes/genome features (Csrp2bp, Zfp133-ps, Dzank1) View all
 
Mutation detailsA spontaneous mutation in the embryonic cell line containing Portm1Cbk. Although initially identified as a duplication, the mutation contains a 3.9 Mbp chromosomal inversion flanked by 81 Kbp and 542 bp deletions. The deletion encompasses the 3' ends of Csrp2bp (exon 8 through 11) and Dzank1 (6330439K17Rik) (exon 20 and 21) as well as all of Zfp133-ps. The distal breakpoint of the inversion is a fusion between Chr2:144479015 bp, located in Intron 19 of Dzank1, and Chr2:148326553 bp, located 68824 bp 5' of the gene Sstr4. 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, J:236024)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Ppcd1 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:  2 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
03/14/2017
MGI 6.08
The Jackson Laboratory