Phenotypes Associated with This Genotype

Genotype
MGI:5006707

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

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

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