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Symbol
Name
ID
Ebp
EBP cholestenol delta-isomerase
MGI:107822
Phenotype annotations related to growth/size/body
Darker colors indicate more annotations
Human Phenotypes
Thickened nuchal skin fold
Long neck
Redundant neck skin
Short neck
Hemiatrophy
Rhizomelia
Short stature
Failure to thrive
Postnatal growth retardation
Disease(s) Associated with EBP
MEND syndrome
X-linked chondrodysplasia punctata 2

Mouse Phenotypes
decreased body weight
decreased body size
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
04/30/2024
MGI 6.23
The Jackson Laboratory