Phenotypes Associated with This Genotype

Genotype
MGI:5629822

• Allelic Composition: Slurp1^tm1Lex/Slurp1^tm1Lex
• Genetic Background: Not Specified

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

limbs/digits/tail

abnormal autopod morphology ( J:210836 )

• mice develop palmoplantar keratoderma by 6 weeks of age

• however, no inflammatory infiltrates are seen

integument

increased keratinocyte proliferation ( J:210836 )

• BrdU incorporation into keratinocytes of paw skin is increased

impaired skin barrier function ( J:210836 )

• water loss from the paw skin is greater than in wild-type mice, but water loss from the skin on the ear and back is similar to wild-type mice

abnormal stratum corneum lipid matrix formation ( J:210836 )

• stratum corneum of the paw contains abundant lipid droplets

abnormal epidermis stratum granulosum morphology ( J:210836 )

• stratum granulosum of the paw is poorly demarcated

thick epidermis ( J:210836 )

• epidermis of the paw is thickened

• however, skin and hair are normal

adipose tissue

decreased total body fat amount ( J:210836 )

• reduced adiposity on a chow diet, with decreased fat mass and percent body fat

decreased percent body fat/body weight ( J:210836 )

behavior/neurological

increased food intake ( J:210836 )

limb grasping ( J:210836 )

decreased locomotor activity ( J:210836 )

• physical activity is lower, as judged by laser beam breaks in metabolic cages

cellular

increased keratinocyte proliferation ( J:210836 )

• BrdU incorporation into keratinocytes of paw skin is increased

growth/size/body

decreased body weight ( J:210836 )

• on a chow diet

decreased susceptibility to diet-induced obesity ( J:210836 )

• mice are protected from obesity on a high-fat diet

homeostasis/metabolism

decreased susceptibility to diet-induced obesity ( J:210836 )

• mice are protected from obesity on a high-fat diet

decreased circulating insulin level ( J:210836 )

decreased circulating leptin level ( J:210836 )

decreased circulating cholesterol level ( J:210836 )

decreased circulating triglyceride level ( J:210836 )

impaired skin barrier function ( J:210836 )

• water loss from the paw skin is greater than in wild-type mice, but water loss from the skin on the ear and back is similar to wild-type mice

increased carbon dioxide production ( J:210836 )

increased oxygen consumption ( J:210836 )

increased respiratory quotient ( J:210836 )

• respiratory quotient is higher during the dark phase

digestive/alimentary system

digestive/alimentary phenotype ( J:210836 )

N • gastrointestinal tract is normal

respiratory system

respiratory system phenotype ( J:210836 )

N • bronchial epithelium and lungs are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mal de Meleda		DOID:0060862	OMIM:248300	J:210836