Phenotypes Associated with This Genotype

Genotype
MGI:3773293

• Allelic Composition: Hoxa1^tm3.1Mrc/Hoxa1^tm3.1Mrc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

perinatal lethality, complete penetrance ( J:178887 )

• pups die at P0-P1

cardiovascular system

abnormal cardiovascular system morphology ( J:178887 )

• 74% of mutants exhibit cardiovascular defects at E18.5-P1

abnormal aortic arch morphology ( J:178887 )

• 68% of mutants exhibit aortic arch malformations

• aortic arch malformations are the most severe cardiovascular defects in mutants

retroesophageal right subclavian artery ( J:178887 )

• 18% of mutants exhibit aberrant retroesophageal right subclavian artery

interrupted aortic arch, type b ( J:178887 )

• 50% of mutants exhibit interrupted aortic arch type B (IAAB)

right aortic arch ( J:178887 )

• 3% of mutants exhibit right aortic arch

abnormal external carotid artery morphology ( J:178887 )

• 68% of mutants exhibit cerebrovascular abnormalities including abnormal branching, hypoplasia or aplasia of the internal and external carotid arteries

abnormal internal carotid artery morphology ( J:178887 )

• 68% of mutants exhibit cerebrovascular abnormalities including abnormal branching, hypoplasia or aplasia of the internal and external carotid arteries

heart right ventricle hypertrophy ( J:178887 )

• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot

abnormal cardiac outflow tract development ( J:178887 )

• 47% of mutants exhibit cardiac outflow tract abnormalities

overriding aortic valve ( J:178887 )

• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot

ventricular septal defect ( J:178887 )

• seen in 24% of mutants

bicuspid aortic valve ( J:178887 )

• seen in 24% of mutants

nervous system

increased hindbrain apoptosis ( J:41540 )

• apoptosis in the hindbrain is increased

embryo

small second pharyngeal arch ( J:41540 )

• hypoplasia of the second branchial arch is barely perceptible

endocrine/exocrine glands

abnormal gland morphology ( J:178887 )

• all mutants show at least one cardiovascular or glandular malformation

absent parathyroid glands ( J:178887 )

• 71% of mutants exhibit parathyroid hypoplasia or aplasia

parathyroid hypoplasia ( J:178887 )

• 71% of mutants exhibit parathyroid hypoplasia or aplasia

thymus hypoplasia ( J:178887 )

• 71% of mutants exhibit thymic hypoplasia

hematopoietic system

thymus hypoplasia ( J:178887 )

• 71% of mutants exhibit thymic hypoplasia

immune system

thymus hypoplasia ( J:178887 )

• 71% of mutants exhibit thymic hypoplasia

craniofacial

small second pharyngeal arch ( J:41540 )

• hypoplasia of the second branchial arch is barely perceptible

muscle

heart right ventricle hypertrophy ( J:178887 )

• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot

cellular

increased hindbrain apoptosis ( J:41540 )

• apoptosis in the hindbrain is increased

growth/size/body

heart right ventricle hypertrophy ( J:178887 )

• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Athabaskan brainstem dysgenesis syndrome		DOID:0050682	OMIM:601536	J:178887