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Phenotypes Associated with This Genotype
Genotype
MGI:3773293
Allelic
Composition
Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa1tm3.1Mrc mutation (0 available); any Hoxa1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• apoptosis in the hindbrain is increased

mortality/aging

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

embryo
• 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 ID Ref(s)
Athabaskan Brainstem Dysgenesis Syndrome; ABDS 601536 J:178887


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory