Phenotypes Associated with This Genotype

Genotype
MGI:2653142

• Allelic Composition: Rhbdf2^cub/Rhbdf2^cub
• Genetic Background: B6.Cg-Rhbdf2^cub

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

enhanced wound healing ( J:250259 )

• mice exhibit more rapid wound healing in an ear punch assay than wild-type mice

• bone-marrow engraftment from mutant donor mice into slow-healing wild-type recipient mice fail to transfer the cutaneous rapid wound-healing

immune system

white adipose tissue inflammation ( J:82006 )

• mild to moderate inflammation in white adipose tissue, with mixed cellular infiltrates in the subdermal adipose tissue

endocrine/exocrine glands

enlarged sebaceous gland ( J:82006 , J:244160 )

• described as hyperplastic (J:82006)

adipose tissue

white adipose tissue inflammation ( J:82006 )

• mild to moderate inflammation in white adipose tissue, with mixed cellular infiltrates in the subdermal adipose tissue

pigmentation

abnormal hair shaft melanin granule shape ( J:82006 )

• irregular melanin granules

integument

enlarged sebaceous gland ( J:82006 , J:244160 )

• described as hyperplastic (J:82006)

alopecia ( J:82006 , J:244160 )

• mice are almost hairless by 10 days of age, but remain covered with sparse, short, kinky hair (J:82006)

• complete hair loss throughout life (J:244160)

abnormal hair shaft morphology ( J:82006 )

• tapered distal ends that terminate in the midshaft of the follicle or close to the surface; absent hair cells

abnormal hair shaft melanin granule shape ( J:82006 )

• irregular melanin granules

abnormal hair follicle morphology ( J:244160 , J:250259 )

• follicular dystrophy (J:244160)

• follicular dystrophy (J:250259)

• mutant mice receiving skin grafts from wild-type mice retain the skin phenotype of the donor mouse, with no follicular dystrophy and normal hair growth in the grafts (J:250259)

• skin grafts from mutant mice exhibit follicular dystrophy following transplantation onto wild-type mice (J:250259)

abnormal hair follicle inner root sheath morphology ( J:82006 )

• abnormal inner root sheath; wider and irregular in shape

abnormal dermal layer morphology ( J:82006 )

• densely fibrotic dermis with moderate inflammation of anagen skin

• denser collagen

hyperkeratosis ( J:244160 )

thick epidermis ( J:82006 )

• densely fibrotic dermis with moderate inflammation of anagen skin

skin hyperplasia ( J:244160 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
palmoplantar keratoderma-esophageal carcinoma syndrome		DOID:0111506	OMIM:148500	J:250259