Ppcd1 Other Genome Feature Detail

Summary

• Symbol
  Ppcd1
• Name
  posterior polymorphous corneal dystrophy 1
• Synonyms
  Dp(2Csrp2bp-6330439K17Rik)1Bra, Dp(2Csrp2bp-Dzank1)1Bra, PPCD1

• Feature Type
  mutation defined region
• IDs
  MGI:4830884

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 2, Syntenic

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  18 phenotypes from multigenic genotypes
  3 images
  3 phenotype references
  

• All Mutations and Alleles
  1
• Spontaneous
  1
• Find Mice (IMSR)
  1 strains or lines available

Mice heterozygous for the mutation exhibit abnormal cornea and preweaning lethality.

References

• Summaries
  All 4

  Phenotypes 3
• Earliest
  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)
• Latest
  J:251676 Shen AL, et al., Retinal pathology in the PPCD1 mouse. PLoS One. 2017;12(10):e0185094