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Symbol
Name
ID
Efemp2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
MGI:1891209
Phenotype annotations related to integument
Darker colors indicate more annotations
Human Phenotypes
Bruising susceptibility
Telangiectases of the cheeks
Cutis laxa
Hyperextensible skin
Soft skin
Soft, doughy skin
Dermal translucency
Progeroid facial appearance
Thin skin
Disease(s) Associated with EFEMP2
arterial tortuosity syndrome
autosomal recessive cutis laxa type IB

Mouse Phenotypes
alopecia
focal dorsal hair loss
abnormal hypodermis morphology
abnormal hypodermis muscle layer morphology
abnormal cutaneous collagen fibril morphology
abnormal cutaneous elastic fiber morphology
thin dermal layer
loose skin
Availability Mouse Genotype
Efemp2tm1.1Chu/Efemp2tm1.1Chu
Efemp2tm1Dgen/Efemp2tm1Dgen

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory