Ppcd1 Spontaneous Allele Detail MGI Mouse (MGI:4830871)

Ppcd1
Spontaneous Allele Detail

Summary

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
Alliance:	Ppcd1 page

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 (Kat14, Zfp133-ps, Dzank1) View all
		Mutation details: A spontaneous mutation in the embryonic cell line containing Por^tm1Cbk. 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)

Phenotypes

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:	3 reference(s)

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