Ccd Gene Detail

Summary

• Symbol
  Ccd
• Name
  cleidocranial dysplasia

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:88291
  NCBI Gene: 109920
• Alliance
  gene page

Location &
Maps

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

• Genetic Map
  Chromosome 17, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with Ccd mouse models

Human Disease

Mouse Models

cleidocranial dysplasia

IDs

cleidocranial dysplasia      

DOID:13994
ICD10CM:Q74.0
MESH:D002973
NCI:C75020
OMIM:119600
OMIM:216330
ORDO:1452
UMLS_CUI:C0008928

View 2 models

Mouse Models

Human Disease Modeled: cleidocranial dysplasia

Allelic Composition	Genetic Background	Reference	Phenotypes
Ccd/Ccd+	B10Rl.101-Ccd	J:16170	View
Ccd/Ccd+	involves: 101 * C3H	J:14006	View

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

• Mutations/Alleles
  1 with disease annotations

• References
  2 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  22 phenotypes from 1 allele in 2 genetic backgrounds
  24 phenotypes from multigenic genotypes
  6 phenotype references
  

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

Homozygous mutation of this gene results in embryonic lethality. Heterozygotes show homology to cleidocranial dysplasia, a skeletal disorder in man. It causes partial or complete failure of ossification of clavicles, symphysis pubis, and cranial fontanelles.

Sequences &
Gene Models

• NCBI Gene
  109920

Other
Accession IDs

MGD-MRK-1795

References

• Summaries
  All 7

  Diseases 2

  Phenotypes 6
• Earliest
  J:64450 Selby PB, et al., Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. I. Plan, summary of results and discussion. Mutat Res. 1977 Jun;43(3):357-75
• Latest
  J:42584 Huang LF, et al., Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. Dev Dyn. 1997 Sep;210(1):33-40