Cat4 Gene Detail

Summary

• Symbol
  Cat4
• Name
  dominant cataract 4
• Synonyms
  anterior pyramidal cataract, Apc-1, Apcat-1, Apcat1, Apyc, Pcs-2, polar cataract and small eye 2

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:88040
  NCBI Gene: 109738
• Alliance
  gene page

Location &
Maps

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

• Genetic Map
  Chromosome 8, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with Cat4 mouse models

Human Disease

Mouse Models

cataract

IDs

cataract      

DOID:83
ICD10CM:H26
ICD9CM:366.8
OMIM:601371
OMIM:PS116200
UMLS_CUI:C0029531

View 3 models

Mouse Models

Human Disease Modeled: cataract

Allelic Composition	Genetic Background	Reference	Phenotypes
Cat4Apcat1-2/Cat4+	involves: 101 * C3H	J:6686 J:9528	View
Cat4Apcat1-4/Cat4+	involves: 101 * C3H	J:1598	View
Cat4Apcat1-3/Cat4+	involves: 101 * C3H	J:9528	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  3 with disease annotations

• References
  3 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  10 phenotypes from 3 alleles in 1 genetic background
  4 phenotype references
  

• All Mutations and Alleles
  3
• Radiation induced
  2
• Spontaneous
  1
• Find Mice (IMSR)
  0 strains or lines available

Homozygotes and heterozygous mutants display eye defects with some or all of: anterior lens opacity with polar adhesions, corneal opacity, anscoria, iris dysplasia, and microphthalmia. For some alleles, homozygotes show anophthalmia or embryonic lethality.

Sequences &
Gene Models

• NCBI Gene
  109738

Other
Accession IDs

MGD-MRK-1318, MGD-MRK-13189, MGD-MRK-1348, MGD-MRK-1349, MGD-MRK-1350, MGD-MRK-1383

References

• Summaries
  All 7

  Diseases 3

  Phenotypes 4
• Earliest
  J:6686 Kratochvilova J, Dominant cataract mutations detected in offspring of gamma-irradiated male mice. J Hered. 1981 Sep-Oct;72(5):302-7
• Latest
  J:49424 Grimes PA, et al., Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8. Invest Ophthalmol Vis Sci. 1998 Sep;39(10):1863-9