Mouse Genome Informatics
hm
    Abca12tm1Shzu/Abca12tm1Shzu
B6.129S-Abca12tm1Shzu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die within hours of birth

respiratory system
• alveolar spaces are smaller than in wild-type mice
• type II cells lack lamellar body-like organelles
• mice produce less Sftpb protein than in wild-type mice
• mice exhibit alveolar collapse

homeostasis/metabolism
• at E18.5 and birth mice exhibit increased dehydration compared to wild-type mice
• at E18.5, mice exhibit increased skin permeability and higher trans-epidermal water loss compared to wild-type mice

craniofacial
• at birth, some mice exhibit eversions of the lips

growth/size/body
• at birth, some mice exhibit eversions of the lips
• decreased body weight at birth

integument
• at E18.5, mice exhibit increased skin permeability and higher trans-epidermal water loss compared to wild-type mice
• mice exhibit lipid droplets in the upper epidermis
• mice exhibit thick, compact stratum corneum without the normal basket-weave appearance observed in wild-type mice
• mice exhibit numerous defective lamellar granules
• at birth
• at birth
• at E18.5
• at birth, some mice exhibit skin fissures
• at E18.5
• at birth, skin is less flexible than in wild-type mice
• skin development is normal until E15.5 but by E18.5 mice exhibit taut and shiny skin without normal skin folds and exhibit contractures of the limbs

cardiovascular system

Mouse Models of Human Disease
OMIM IDRef(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:139048