Phenotypes associated with this allele

• Allele Symbol: Rhbdf2^em2Mvw
• Allele Name: endonuclease-mediated mutation 2, Michael Wiles
• Allele ID: MGI:6119764
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rhbdf2^em2Mvw/Rhbdf2^em2Mvw	C57BL/6J-Rhbdf2^em2Mvw/Mvw	MGI:6256973
cx2	Areg^Mcub/Areg^Mcub Rhbdf2^em2Mvw/Rhbdf2^em2Mvw	involves: C57BL/6J * V/LeJ	MGI:6256975

Genotype
MGI:6256973

hm1

• Allelic Composition: Rhbdf2^em2Mvw/Rhbdf2^em2Mvw
• Genetic Background: C57BL/6J-Rhbdf2^em2Mvw/Mvw

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

endocrine/exocrine glands

enlarged sebaceous gland ( J:244160 )

homeostasis/metabolism

enhanced wound healing ( J:244160 )

• ear punch closure assays indicate accelerated wound healing

integument

enlarged sebaceous gland ( J:244160 )

abnormal hair growth ( J:244160 )

• mice show significant hair loss as early as P11, but by 8 weeks of age, mice develop a thin layer of curly hair

abnormal hair follicle morphology ( J:244160 )

• various degrees of follicular dystrophy

hyperkeratosis ( J:244160 )

skin hyperplasia ( J:244160 )

abnormal keratinocyte physiology ( J:244160 )

• MEKs show an increase in stimulated secretion of amphiregulin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
palmoplantar keratoderma-esophageal carcinoma syndrome		DOID:0111506	OMIM:148500	J:244160

Genotype
MGI:6256975

cx2

• Allelic Composition: Areg^Mcub/Areg^Mcub; Rhbdf2^em2Mvw/Rhbdf2^em2Mvw
• Genetic Background: involves: C57BL/6J * V/LeJ

integument

integument phenotype ( J:244160 )

N • mice do not exhibit follicular dystrophy or hair, presenting a full wavy coat, and no hyperplasia or hyperkeratosis of skin exhibiting normal skin no hyperplasia or hyperkeratosis of skin exhibiting normal skin