Mouse Genome Informatics
hm
    Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• pups die at P0-P1

cardiovascular system
• 74% of mutants exhibit cardiovascular defects at E18.5-P1
• 68% of mutants exhibit aortic arch malformations
• aortic arch malformations are the most severe cardiovascular defects in mutants
• 18% of mutants exhibit aberrant retroesophageal right subclavian artery
• 50% of mutants exhibit interrupted aortic arch type B (IAAB)
• 3% of mutants exhibit right aortic arch
• 68% of mutants exhibit cerebrovascular abnormalities including abnormal branching, hypoplasia or aplasia of the internal and external carotid arteries
• 68% of mutants exhibit cerebrovascular abnormalities including abnormal branching, hypoplasia or aplasia of the internal and external carotid arteries
• 47% of mutants exhibit cardiac outflow tract abnormalities
• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot
• seen in 24% of mutants
• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot
• seen in 24% of mutants

nervous system
• apoptosis in the hindbrain is increased

embryogenesis
• hypoplasia of the second branchial arch is barely perceptible

endocrine/exocrine glands
• all mutants show at least one cardiovascular or glandular malformation
• 71% of mutants exhibit parathyroid hypoplasia or aplasia
• 71% of mutants exhibit parathyroid hypoplasia or aplasia
• 71% of mutants exhibit thymic hypoplasia

hematopoietic system
• 71% of mutants exhibit thymic hypoplasia

immune system
• 71% of mutants exhibit thymic hypoplasia

craniofacial
• hypoplasia of the second branchial arch is barely perceptible

Mouse Models of Human Disease
OMIM IDRef(s)
Athabaskan Brainstem Dysgenesis Syndrome; ABDS 601536 J:178887