Phenotypes associated with this allele

• Allele Symbol: Ambra1^em1(IMPC)Bay
• Allele Name: endonuclease-mediated mutation 1, Baylor College of Medicine
• Allele ID: MGI:6257521
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ambra1^em1(IMPC)Bay/Ambra1^em1(IMPC)Bay	C57BL/6N-Ambra1^em1(IMPC)Bay/BayMmucd	MGI:6408235
ht2	Ambra1^em1(IMPC)Bay/Ambra1^+	C57BL/6N-Ambra1^em1(IMPC)Bay/BayMmucd	MGI:6461060

Genotype
MGI:6408235

hm1

• Allelic Composition: Ambra1^em1(IMPC)Bay/Ambra1^em1(IMPC)Bay
• Genetic Background: C57BL/6N-Ambra1^em1(IMPC)Bay/BayMmucd

Data Sources

IMPC Data for Ambra1

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

craniofacial

abnormal cranium morphology ( J:211773 )

♀

IMPC - BCM

facial cleft ( J:211773 )

♂

IMPC - BCM

embryo

abnormal neural tube closure ( J:211773 )

♀

IMPC - BCM

spina bifida ( J:211773 )

♂

IMPC - BCM

growth/size/body

facial cleft ( J:211773 )

♂

IMPC - BCM

limbs/digits/tail

abnormal tail morphology ( J:211773 )

IMPC - BCM

mortality/aging

prenatal lethality ( J:211773 )

IMPC - BCM

preweaning lethality, complete penetrance ( J:211773 )

IMPC - BCM

nervous system

abnormal neural tube closure ( J:211773 )

♀

IMPC - BCM

spina bifida ( J:211773 )

♂

IMPC - BCM

abnormal midbrain morphology ( J:211773 )

♀

IMPC - BCM

abnormal hindbrain morphology ( J:211773 )

♀

IMPC - BCM

skeleton

abnormal cranium morphology ( J:211773 )

♀

IMPC - BCM

Genotype
MGI:6461060

ht2

• Allelic Composition: Ambra1^em1(IMPC)Bay/Ambra1⁺
• Genetic Background: C57BL/6N-Ambra1^em1(IMPC)Bay/BayMmucd

Data Sources

IMPC Data for Ambra1

nervous system

decreased prepulse inhibition ( J:211773 )

♂

IMPC - BCM

vision/eye

abnormal eye anterior chamber depth ( J:211773 )

♀

IMPC - BCM

abnormal retina morphology ( J:211773 )

IMPC - BCM

abnormal retina inner nuclear layer morphology ( J:211773 )

IMPC - BCM

increased total retina thickness ( J:211773 )

♀

IMPC - BCM