Phenotypes Associated with This Genotype

Genotype
MGI:5311110

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh; Spink5^tm1Hov/Spink5^tm1Hov
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

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

mortality/aging

neonatal lethality, complete penetrance ( J:180855 )

• mutants exhibit rapid lethality after birth due to severe dehydration

integument

abnormal vibrissa morphology ( J:180855 )

• mutants exhibit vibrissae abnormalities

abnormal skin morphology ( J:180855 )

• mutants exhibit skin erosions

• double mutant skin grafted onto athymic immunodeficient nude mice appears erythematous, scaly, and has no hair, shows acanthosis with papillomatosis, hyperkeratosis, and parakeratosis and an increase in mast cells and polynuclear eosinophilic cells

abnormal epidermis stratum corneum morphology ( J:180855 )

• stratum corneum detachment

acanthosis ( J:180855 )

• moderate acanthosis

homeostasis/metabolism

dehydration ( J:180855 )

• mutants exhibit rapid lethality after birth due to severe dehydration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Netherton syndrome		DOID:0050474	OMIM:256500	J:180855