Phenotypes Associated with This Genotype

Genotype
MGI:6303984

• Allelic Composition: Piga^tm1Tak/Piga^tm1Tak; Tg(KRT5-cre)1Tak/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

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

integument

impaired skin barrier function ( J:91794 )

♀ • mice show an increase in transepidermal water loss across skin explants

abnormal epidermis stratum corneum morphology ( J:91794 )

♀ • total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine

♀ • however, structure of corneocytes, including the cornified envelope, is normal

abnormal epidermal lamellar body morphology ( J:91794 )

♀ • lamellar membrane structures in stratum corneum are shortened, distorted, and replaced by incompletely processed, lamellar body-derived materials

♀ • most lamellar bodies in the stratum granulosum layer of the epidermis display abnormalities in size and/or internal contents, indicating an abnormality in lamellar body formation

♀ • however, overall numbers of lamellar bodies appear normal

homeostasis/metabolism

abnormal amino acid level ( J:91794 )

♀ • total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine

dehydration ( J:91794 )

♀ • high-frequency, skin-surface conductance is lower indicating reduced stratum corneum hydration

impaired skin barrier function ( J:91794 )

♀ • mice show an increase in transepidermal water loss across skin explants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 4B		DOID:0060713	OMIM:242500	J:91794