Phenotypes associated with this allele

• Allele Symbol: Aldh4a1^em1Dmro
• Allele Name: endonuclease-mediated mutation 1, Daria Mochly-Rosen
• Allele ID: MGI:8278870
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aldh4a1^em1Dmro/Aldh4a1^em1Dmro	C57BL/6J-Aldh4a1^em1Dmro	MGI:8353637

Genotype
MGI:8353637

hm1

• Allelic Composition: Aldh4a1^em1Dmro/Aldh4a1^em1Dmro
• Genetic Background: C57BL/6J-Aldh4a1^em1Dmro

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

cellular

decreased astrocyte number ( J:385019 )

growth/size/body

growth/size/body region phenotype ( J:385019 )

N • normal body length and organ morphology (other than brain)

decreased birth weight ( J:385019 )

postnatal growth retardation ( J:385019 )

homeostasis/metabolism

increased proline level ( J:385019 )

• increased levels in plasma, urine and brain

increased circulating proline level ( J:385019 )

prolinuria ( J:385019 )

mortality/aging

preweaning lethality, incomplete penetrance ( J:385019 )

• homozygous mice born at half the expected rate

• 30% of pups die around weaning age

prenatal lethality, incomplete penetrance ( J:385019 )

• homozygous mice born at half the expected rate

nervous system

decreased astrocyte number ( J:385019 )

decreased brain weight ( J:385019 )

• 20% lower

renal/urinary system

prolinuria ( J:385019 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperprolinemia type 2		DOID:0080543	OMIM:239510	J:385019