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Phenotypes Associated with This Genotype
Genotype
MGI:3809674
Allelic
Composition
Abca12tm1Shzu/Abca12tm1Shzu
Genetic
Background
B6.129S-Abca12tm1Shzu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca12tm1Shzu mutation (0 available); any Abca12 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within hours of birth (J:139048)
• mice die within hours of birth (J:139048)

respiratory system
• alveolar spaces are smaller than in wild-type mice (J:139048)
• alveolar spaces are smaller than in wild-type mice (J:139048)
• type II cells lack lamellar body-like organelles (J:139048)
• type II cells lack lamellar body-like organelles (J:139048)
• mice produce less Sftpb protein than in wild-type mice (J:139048)
• mice produce less Sftpb protein than in wild-type mice (J:139048)
• mice exhibit alveolar collapse (J:139048)
• mice exhibit alveolar collapse (J:139048)

homeostasis/metabolism
• at E18.5 and birth mice exhibit increased dehydration compared to wild-type mice (J:139048)
• at E18.5 and birth mice exhibit increased dehydration compared to wild-type mice (J:139048)
• at E18.5, mice exhibit increased skin permeability and higher trans-epidermal water loss compared to wild-type mice (J:139048)
• at E18.5, mice exhibit increased skin permeability and higher trans-epidermal water loss compared to wild-type mice (J:139048)

craniofacial
• at birth, some mice exhibit eversions of the lips (J:139048)
• at birth, some mice exhibit eversions of the lips (J:139048)

growth/size/body
• at birth, some mice exhibit eversions of the lips (J:139048)
• at birth, some mice exhibit eversions of the lips (J:139048)
• decreased body weight at birth (J:139048)
• decreased body weight at birth (J:139048)
• at E18.5 (J:139048)
• at E18.5 (J:139048)

integument
• at E18.5, mice exhibit increased skin permeability and higher trans-epidermal water loss compared to wild-type mice (J:139048)
• at E18.5, mice exhibit increased skin permeability and higher trans-epidermal water loss compared to wild-type mice (J:139048)
• mice exhibit lipid droplets in the upper epidermis (J:139048)
• mice exhibit lipid droplets in the upper epidermis (J:139048)
• mice exhibit thick, compact stratum corneum without the normal basket-weave appearance observed in wild-type mice (J:139048)
• mice exhibit thick, compact stratum corneum without the normal basket-weave appearance observed in wild-type mice (J:139048)
• mice exhibit numerous defective lamellar granules (J:139048)
• mice exhibit numerous defective lamellar granules (J:139048)
• at birth (J:139048)
• at birth (J:139048)
• at birth (J:139048)
• at birth (J:139048)
• at E18.5 (J:139048)
• at E18.5 (J:139048)
• at birth, some mice exhibit skin fissures (J:139048)
• at birth, some mice exhibit skin fissures (J:139048)
• at E18.5 (J:139048)
• at E18.5 (J:139048)
• at birth, skin is less flexible than in wild-type mice (J:139048)
• at birth, skin is less flexible than in wild-type mice (J:139048)
• 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 (J:139048)
• 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 (J:139048)

cardiovascular system

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory