Phenotypes Associated with This Genotype

Genotype
MGI:3809674

• Allelic Composition: Abca12^tm1Shzu/Abca12^tm1Shzu
• Genetic Background: B6.129S-Abca12^tm1Shzu

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

mortality/aging

neonatal lethality, complete penetrance ( J:139048 )

• mice die within hours of birth

respiratory system

pulmonary vascular congestion ( J:139048 )

abnormal pulmonary alveolus morphology ( J:139048 )

• alveolar spaces are smaller than in wild-type mice

abnormal type II pneumocyte morphology ( J:139048 )

• type II cells lack lamellar body-like organelles

absent alveolar lamellar bodies ( J:139048 )

atelectasis ( J:139048 )

• mice exhibit alveolar collapse

thick pulmonary interalveolar septum ( J:139048 )

abnormal surfactant secretion ( J:139048 )

• mice produce less Sftpb protein than in wild-type mice

homeostasis/metabolism

dehydration ( J:139048 )

• at E18.5 and birth mice exhibit increased dehydration compared to wild-type mice

impaired skin barrier function ( J:139048 )

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

craniofacial

eclabion ( J:139048 )

• at birth, some mice exhibit eversions of the lips

growth/size/body

eclabion ( J:139048 )

• at birth, some mice exhibit eversions of the lips

decreased birth weight ( J:139048 )

• decreased body weight at birth

decreased fetal weight ( J:139048 )

• at E18.5

integument

impaired skin barrier function ( J:139048 )

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

abnormal epidermal layer morphology ( J:139048 )

• mice exhibit lipid droplets in the upper epidermis

hyperkeratosis ( J:139048 )

• mice exhibit thick, compact stratum corneum without the normal basket-weave appearance observed in wild-type mice

abnormal epidermal lamellar body morphology ( J:139048 )

• mice exhibit numerous defective lamellar granules

reddish skin ( J:139048 )

• at birth

scaly skin ( J:139048 )

• at birth

shiny skin ( J:139048 )

• at E18.5

skin lesions ( J:139048 )

• at birth, some mice exhibit skin fissures

tight skin ( J:139048 )

• at E18.5

abnormal skin condition ( J:139048 )

• at birth, skin is less flexible than in wild-type mice

abnormal skin development ( 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

cardiovascular system

pulmonary vascular congestion ( J:139048 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 4B		DOID:0060713	OMIM:242500	J:139048