About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3834263
Allelic
Composition
Abca12tm1Lex/Abca12tm1Lex
Genetic
Background
involves: 129S/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca12tm1Lex mutation (2 available); any Abca12 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neonatal lethality and epidermal hyperkeratosis in Abca12tm1Lex/Abca12tm1Lex mice

mortality/aging
• while near normal numbers of embryos are present at E18.5, no mice survives the immediate postnatal period (J:144062)
• while near normal numbers of embryos are present at E18.5, no mice survives the immediate postnatal period (J:144062)

homeostasis/metabolism
• after birth mice dehydrate rapidly (J:144062)
• mice uniformly uptake dye unlike wild-type mice (J:144062)
• at E18.5, transepidermal water loss is greater than in wild-type mice (J:144062)
• after birth mice dehydrate rapidly (J:144062)
• mice uniformly uptake dye unlike wild-type mice (J:144062)
• at E18.5, transepidermal water loss is greater than in wild-type mice (J:144062)
• skin exhibits loss of ceramide and accumulation of glucoslyceramide precursors unlike in wild-type mice (J:144062)
• skin exhibits loss of ceramide and accumulation of glucoslyceramide precursors unlike in wild-type mice (J:144062)

integument
• after birth mice dehydrate rapidly (J:144062)
• mice uniformly uptake dye unlike wild-type mice (J:144062)
• at E18.5, transepidermal water loss is greater than in wild-type mice (J:144062)
• after birth mice dehydrate rapidly (J:144062)
• mice uniformly uptake dye unlike wild-type mice (J:144062)
• at E18.5, transepidermal water loss is greater than in wild-type mice (J:144062)
• mice exhibit a 6-fold thickening of the stratum corneum (J:144062)
• mice exhibit a 6-fold thickening of the stratum corneum (J:144062)
• the stratum granulosum lacks intact lamellar storage bodies (J:144062)
• lack of organized lamellar structure in the interstitial spaces (J:144062)
• the stratum granulosum lacks intact lamellar storage bodies (J:144062)
• lack of organized lamellar structure in the interstitial spaces (J:144062)
• epidermal desquamation is impaired (J:144062)
• however, epidermal proliferation is normal (J:144062)
• epidermal desquamation is impaired (J:144062)
• however, epidermal proliferation is normal (J:144062)

Mouse Models of Human Disease
OMIM ID Ref(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:144062


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory