Phenotypes associated with this allele

• Allele Symbol: Aldh1a2^grim
• Allele Name: grimace
• Allele ID: MGI:5004939
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aldh1a2^grim/Aldh1a2^grim	involves: 129S1/Sv * C57BL/6	MGI:5429768
hm2	Aldh1a2^grim/Aldh1a2^grim	involves: 129S1/Sv * C57BL/6 * FVB/NJ	MGI:5006707

Genotype
MGI:5429768

hm1

• Allelic Composition: Aldh1a2^grim/Aldh1a2^grim
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:185330 )

• die by E10.5

embryo

abnormal pharyngeal arch morphology ( J:185330 )

abnormal first pharyngeal arch morphology ( J:185330 )

• small and malformed

small first pharyngeal arch ( J:185330 )

absent pharyngeal arches ( J:185330 )

• in most embryos arches posterior to the first arch are absent

abnormal embryo turning ( J:185330 )

• defects in axial turning; however, a small degree if turning is seen

embryonic growth arrest ( J:185330 )

• at about E8.5 - E9.0

absent forelimb buds ( J:185330 )

• forelimb buds are small or absent

small forelimb buds ( J:185330 )

• forelimb buds are small or absent

decreased somite size ( J:185330 )

• small somites

cardiovascular system

failure of heart looping ( J:185330 )

• dilated unlooped hearts

abnormal heart tube morphology ( J:185330 )

• dilated unlooped hearts

hearing/vestibular/ear

abnormal otic vesicle morphology ( J:185330 )

• occasionally duplicated

small otic vesicle ( J:185330 )

• tiny

homeostasis/metabolism

abnormal vitamin A metabolism ( J:185330 )

• almost completely devoid of retinoic acid signaling

limbs/digits/tail

absent forelimb buds ( J:185330 )

• forelimb buds are small or absent

small forelimb buds ( J:185330 )

• forelimb buds are small or absent

craniofacial

abnormal pharyngeal arch morphology ( J:185330 )

abnormal first pharyngeal arch morphology ( J:185330 )

• small and malformed

small first pharyngeal arch ( J:185330 )

absent pharyngeal arches ( J:185330 )

• in most embryos arches posterior to the first arch are absent

Genotype
MGI:5006707

hm2

• Allelic Composition: Aldh1a2^grim/Aldh1a2^grim
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

Contorted facial expression in E9.5-10.5 Aldh1a2^grim/Aldh1a2^grim embryos

cardiovascular system

abnormal vascular development ( J:171522 )

• at E9.5-10.5, mutants display diminished cranial vascular plexi

absent pharyngeal arch arteries ( J:171522 )

• at E9.5-10.5, mutants lack caudal pharyngeal arch arteries

craniofacial

absent pharyngeal arch arteries ( J:171522 )

• at E9.5-10.5, mutants lack caudal pharyngeal arch arteries

abnormal mandibular prominence morphology ( J:171522 )

• the proximal portion of the mandibular prominence protruded over the medial portion of the arch

abnormal maxillary prominence morphology ( J:171522 )

• there is no clearly defined maxillary prominence, resulting in an absence of the maxillomandibular cleft or pharyngeal arch hinge

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

absent third pharyngeal arch ( J:171522 )

• agenesis of the third pharyngeal arch

embryo

absent pharyngeal arch arteries ( J:171522 )

• at E9.5-10.5, mutants lack caudal pharyngeal arch arteries

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

absent third pharyngeal arch ( J:171522 )

• agenesis of the third pharyngeal arch

decreased embryo size ( J:171522 )

• at E9.5, mutant embryos are one half to two-thirds the size of control littermates

growth/size/body

decreased embryo size ( J:171522 )

• at E9.5, mutant embryos are one half to two-thirds the size of control littermates

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:171522 )

• embryos die by E11

nervous system

abnormal nervous system development ( J:171522 )

• at E9.5 mutants exhibit a near complete nervous system agenesis; no evidence of the neuronal network or plexus that forms in the midbrain, and little evidence of any overt neural differentiation in association with the cranial ganglia

abnormal vestibulocochlear ganglion morphology ( J:171522 )

• at E9.5, agenesis of the facioacoustic/vestibulochochlear ganglia

abnormal glossopharyngeal ganglion morphology ( J:171522 )

• at E9.5, agenesis of the glossopharyngeal ganglia

abnormal trigeminal ganglion morphology ( J:171522 )

• at E9.5, the trigeminal ganglion is considerably hypoplastic

abnormal vagus ganglion morphology ( J:171522 )

• at E9.5, agenesis of the vagal ganglia