Phenotypes associated with this allele

• Allele Symbol: Abca12^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:3528440
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abca12^tm1Lex/Abca12^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:3609636
hm2	Abca12^tm1Lex/Abca12^tm1Lex	involves: 129S/SvEvBrd * C57BL/6J	MGI:3834263

Genotype
MGI:3609636

hm1

• Allelic Composition: Abca12^tm1Lex/Abca12^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

mortality/aging

preweaning lethality, complete penetrance ( J:103485 )

• timing of lethality not actually specified

Genotype
MGI:3834263

hm2

• Allelic Composition: Abca12^tm1Lex/Abca12^tm1Lex
• Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

Neonatal lethality and epidermal hyperkeratosis in Abca12^tm1Lex/Abca12^tm1Lex mice

mortality/aging

neonatal lethality, complete penetrance ( J:144062 )

• while near normal numbers of embryos are present at E18.5, no mice survives the immediate postnatal period

homeostasis/metabolism

impaired skin barrier function ( J:144062 )

• after birth mice dehydrate rapidly

• mice uniformly uptake dye unlike wild-type mice

• at E18.5, transepidermal water loss is greater than in wild-type mice

abnormal lipid homeostasis ( J:144062 )

• skin exhibits loss of ceramide and accumulation of glucoslyceramide precursors unlike in wild-type mice

integument

impaired skin barrier function ( J:144062 )

• after birth mice dehydrate rapidly

• mice uniformly uptake dye unlike wild-type mice

• at E18.5, transepidermal water loss is greater than in wild-type mice

hyperkeratosis ( J:144062 )

• mice exhibit a 6-fold thickening of the stratum corneum

parakeratosis ( J:144062 )

abnormal epidermal lamellar body morphology ( J:144062 )

• the stratum granulosum lacks intact lamellar storage bodies

• lack of organized lamellar structure in the interstitial spaces

epidermal desquamation ( J:144062 )

• epidermal desquamation is impaired

• however, epidermal proliferation is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 4B		DOID:0060713	OMIM:242500	J:144062