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Symbol
Name
ID
Col4a3bp
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
MGI:1915268
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Myopathic facies
Smooth philtrum
Widely spaced teeth
Drooling
Anteverted nares
Synophrys
Upslanted palpebral fissure
Epicanthus
Postnatal microcephaly
Disease(s) Associated with COL4A3BP
autosomal dominant non-syndromic intellectual disability 34

Mouse Phenotypes
abnormal nasal cavity morphology
Availability Mouse Genotype
Col4a3bptm1a(KOMP)Wtsi/Col4a3bptm1a(KOMP)Wtsi

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
10/09/2018
MGI 6.12
The Jackson Laboratory