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Allele : Ppcd1 posterior polymorphous corneal dystrophy 1

Primary Identifier  MGI:4830871 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Ppcd1
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Inversion,
  • Intergenic deletion
  • synonyms:
  • Dp(2)1Bra,
  • Dp(2Csrp2bp-Dzank1)1Bra,
  • Dp(2Csrp2bp-Dzank1)1Bra,
  • Dp(2)1Bra
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1 Feature

Trail: Allele

Genome

0 Expresses

4 Mutation Involves

Trail: Allele

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

6 Carried By

Trail: Allele

0 Driven By

7 Publication categories

Trail: Allele