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Symbol
Name
ID
Ebp
EBP cholestenol delta-isomerase
MGI:107822
Phenotype annotations related to integument
Darker colors indicate more annotations
Human Phenotypes
Sparse eyebrow
Sparse eyelashes
Redundant neck skin
Erythroderma
Patchy alopecia
Sparse hair
Spotty hypopigmentation
Sacral dimple
Ichthyosis
Congenital ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
Disease(s) Associated with EBP
MEND syndrome
X-linked chondrodysplasia punctata 2

Mouse Phenotypes
alopecia
hyperkeratosis
flaky skin
skin lesions
Availability Mouse Genotype
EbpTd-ho/Ebp+
EbpTd/Ebp+

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