Phenotypes Associated with This Genotype

Genotype
MGI:3029167

• Allelic Composition: Tgm1^tm1Kfyn/Tgm1^tm1Kfyn
• Genetic Background: involves: 129S1/SvImJ * 129X1/SvJ * C57BL/6

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

Epidermal abnormalities in Tgm1^tm1Kfyn/Tgm1^tm1Kfyn mice

mortality/aging

neonatal lethality, complete penetrance ( J:45653 )

• death within 4 - 5 hours after birth

behavior/neurological

aphagia ( J:45653 )

• neonates did not eat

abnormal suckling behavior ( J:45653 )

• neonates failed to suckle

decreased locomotor activity ( J:45653 )

• neonates less active than littermate controls

growth/size/body

decreased body size ( J:45653 )

• neonates substantially smaller than littermate controls

decreased body weight ( J:45653 )

• neonates had lower body weight than littermate controls

homeostasis/metabolism

dehydration ( J:45653 )

• progressive dehydration after birth, with death within 4 - 5 hours after birth

impaired skin barrier function ( J:45653 , J:74334 )

integument

impaired skin barrier function ( J:45653 , J:74334 )

abnormal epidermal layer morphology ( J:45653 )

• unclear boundary between statum corneum and stratum granulosum

hyperkeratosis ( J:45653 )

reddish skin ( J:45653 )

tight skin ( J:45653 )

wrinkled skin ( J:45653 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 1		DOID:0060656	OMIM:242300	J:45653 , J:74334