Ppcd1
Spontaneous Allele Detail
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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
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Alliance: |
Ppcd1 page
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Eye abnormalities in Ppcd1/0 mice
Show the 3 phenotype image(s) involving this allele.
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Allele Type: |
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Spontaneous (Null/knockout) |
Mutations: |
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Intergenic deletion, Inversion
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Ppcd1 involves 3 genes/genome features (Kat14, Zfp133-ps, Dzank1)
View all
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Mutation details: A 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 Kat14 (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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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) |
All: |
3 reference(s) |
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