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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Abca12
ATP-binding cassette, sub-family A member 12
MGI:2676312
47 phenotypes from 5 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Abca12el12/Abca12+
involves: 129/Sv * C57BL/6 		abnormal lipid homeostasis J:161652
decreased cholesterol efflux J:161652
Abca12el12/Abca12el12
involves: 129/Sv * C57BL/6 		abnormal corneocyte envelope morphology J:161652
abnormal epidermal lamellar body morphology J:161652
abnormal epidermis stratum basale morphology J:161652
abnormal lipid homeostasis J:161652
abnormal skin development J:161652
abnormal skin morphology J:161652
absent suckling reflex J:161652
decreased cholesterol efflux J:161652
decreased fetal size J:161652
dehydration J:161652
hyperkeratosis J:161652
impaired skin barrier function J:161652
increased cholesterol level J:161652
neonatal lethality, complete penetrance J:161652
thick epidermis stratum granulosum J:161652
thin epidermis J:161652
thin epidermis stratum spinosum J:161652
tight skin J:161652
Abca12em1(IMPC)J/Abca12em1(IMPC)J
C57BL/6NJ-Abca12em1(IMPC)J/Mmjax 		abnormal facial morphology J:211773
abnormal outer ear morphology J:211773
abnormal skin appearance J:211773
edema J:211773
preweaning lethality, complete penetrance J:211773
Abca12smsk/Abca12smsk
involves: C57BL/6J 		abnormal epidermal lamellar body morphology J:262458
abnormal epidermis stratum basale morphology J:262458
abnormal epidermis stratum corneum morphology J:262458
abnormal keratinocyte physiology J:262458
abnormal skin development J:262458
dehydration J:262458
dry skin J:262458
hyperkeratosis J:262458
impaired skin barrier function J:262458
impaired stratum corneum desquamation J:262458
parakeratosis J:262458
perinatal lethality, complete penetrance J:262458
shiny skin J:262458
thick epidermis stratum granulosum J:262458
thin epidermis stratum spinosum J:262458
tight skin J:262458
translucent skin J:262458
Abca12tm1Lex/Abca12tm1Lex
involves: 129S5/SvEvBrd * C57BL/6J 		preweaning lethality, complete penetrance J:103485
Abca12tm1Lex/Abca12tm1Lex
involves: 129S/SvEvBrd * C57BL/6J 		abnormal epidermal lamellar body morphology J:144062
abnormal lipid homeostasis J:144062
epidermal desquamation J:144062
hyperkeratosis J:144062
impaired skin barrier function J:144062
neonatal lethality, complete penetrance J:144062
parakeratosis J:144062
Abca12tm1Shzu/Abca12tm1Shzu
B6.129S-Abca12tm1Shzu 		abnormal epidermal lamellar body morphology J:139048
abnormal epidermal layer morphology J:139048
abnormal pulmonary alveolus morphology J:139048
abnormal skin condition J:139048
abnormal skin development J:139048
abnormal surfactant secretion J:139048
abnormal type II pneumocyte morphology J:139048
absent alveolar lamellar bodies J:139048
atelectasis J:139048
decreased birth weight J:139048
decreased fetal weight J:139048
dehydration J:139048
eclabion J:139048
hyperkeratosis J:139048
impaired skin barrier function J:139048
neonatal lethality, complete penetrance J:139048
pulmonary vascular congestion J:139048
reddish skin J:139048
scaly skin J:139048
shiny skin J:139048
skin lesions J:139048
thick pulmonary interalveolar septum J:139048
tight skin J:139048
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory