Phenotypes Associated with This Genotype

Genotype
MGI:6469470

• Allelic Composition: Sdr9c7^em1Maak/Sdr9c7^em1Maak
• Genetic Background: involves: C57BL/6J

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

integument

impaired skin barrier function ( J:295441 )

• increased trans-epidermal water loss (TEWL)

abnormal epidermis stratum corneum morphology ( J:295441 )

• tightly packed structure

• reduced number of keratohyaline granules in uppermost stratum granulosum

abnormal corneocyte envelope morphology ( J:295441 )

• corneocyte lipid envelope defective or missing

epidermal hyperplasia ( J:295441 )

dry skin ( J:295441 )

• in newborn pups

mortality/aging

postnatal lethality, complete penetrance ( J:295441 )

• pups die within 5 hours after birth

homeostasis/metabolism

impaired skin barrier function ( J:295441 )

• increased trans-epidermal water loss (TEWL)

growth/size/body

decreased body weight ( J:295441 )

• lighter at birth

• weight loss within 5 hours after birth

weight loss ( J:295441 )

• weight loss within 5 hours after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 13		DOID:0080257	OMIM:617574	J:295441