Symbol
Name
ID

Sox18
SRY (sex determining region Y)-box 18
MGI:103559

Phenotype annotations related to integument

Darker colors indicate more annotations

Human Phenotypes

Sparse scalp hair

Absent eyebrow

Absent eyelashes

Sparse eyelashes

Palmar telangiectasia

Facial telangiectasia in butterfly midface distribution

Telangiectasia of extensor surfaces

Alopecia

Abnormal sweat gland morphology

Abnormality of the nail

Freckling

Dermal translucency

Reduced subcutaneous adipose tissue

Thin skin

Epidermal hyperkeratosis

Disease(s) Associated with SOX18

hypotrichosis-lymphedema-telangiectasia syndrome

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Mouse Phenotypes

skin edema

absent auchene hairs

abnormal awl hair morphology

darkened coat color

abnormal hair growth

alopecia

delayed hair appearance

hairless

retarded hair growth

sparse hair

disheveled coat

abnormal zigzag hair morphology

decreased zigzag hair amount

abnormal hair follicle morphology

abnormal vibrissa morphology

abnormal vibrissa number

short vibrissae

Availability

Mouse Genotype

Sox18^Mhdadcc1/Sox18^Mhdadcc1

Sox18^Ra-J/Sox18^Ra-J

Sox18^Ra-Op/Sox18^Ra-Op

Sox18^Ra/Sox18^Ra

Sox18^Ragl/Sox18^Ragl

Sox18^tm1Koop/Sox18^tm1Koop

Sox18^Mhdadcc1/Sox18⁺

Sox18^Ra-J/Sox18⁺

Sox18^Ra-Op/Sox18⁺

Sox18^Ra/Sox18⁺

Sox18^Ragl/Sox18⁺

Sox18^tm1Koop/Sox18⁺

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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