Phenotypes associated with this allele

• Allele Symbol: Aldh3b2^em1Akih
• Allele Name: endonuclease-mediated mutation 1, Akio Kihara
• Allele ID: MGI:7367353
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aldh3b2^em1Akih/Aldh3b2^em1Akih	C57BL/6J-Aldh3b2^em1Akih	MGI:7367455
cx2	Aldh3a2^tm1a(EUCOMM)Wtsi/Aldh3a2^tm1a(EUCOMM)Wtsi Aldh3b2^em1Akih/Aldh3b2^em1Akih	involves: C57BL/6J * C57BL/6N	MGI:7367456

Genotype
MGI:7367455

hm1

• Allelic Composition: Aldh3b2^em1Akih/Aldh3b2^em1Akih
• Genetic Background: C57BL/6J-Aldh3b2^em1Akih

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

normal phenotype

no abnormal phenotype detected ( J:330263 )

• mice develop normally into adulthood

Genotype
MGI:7367456

cx2

• Allelic Composition: Aldh3a2^{tm1a(EUCOMM)Wtsi}/Aldh3a2^{tm1a(EUCOMM)Wtsi}; Aldh3b2^em1Akih/Aldh3b2^em1Akih
• Genetic Background: involves: C57BL/6J * C57BL/6N

mortality/aging

postnatal lethality, complete penetrance ( J:330263 )

• mice do not survive beyond P2 with absent milk spot and left outside of the nest

integument

impaired skin barrier function ( J:330263 )

hyperkeratosis ( J:330263 )

abnormal skin appearance ( J:330263 )

• rougher in texture than control mice with shallow sulcus cutis

homeostasis/metabolism

impaired skin barrier function ( J:330263 )

decreased ceramide level ( J:330263 )

• decreased acylceramide levels in the epidermis and stratum corneum

• however, mice exhibit normal levels of protein-bound ceramides in the epidermis

abnormal triglyceride level ( J:330263 )

• increased level of many triglyceride species in the epidermis

• however, total triglyceride levels are normal

growth/size/body

decreased body weight ( J:330263 )

• after birth

behavior/neurological

absent gastric milk in neonates ( J:330263 )

• associated with being left outside of the nest

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren-Larsson syndrome		DOID:14501	OMIM:270200	J:330263