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Phenotypes Associated with This Genotype
Genotype
MGI:3703705
Allelic
Composition
Del(16Dgcr2-Hira)1Rak/+
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• a significant proportion of mutants die at or shortly after birth

cardiovascular system
• 47% exhibit abnormal patterning of the great vessels
• the right subclavian artery arises ectopically in many cases
• in 6% of embryos, the right subclavian artery arises from the ascending aorta
• in 16% of embryos, the right subclavian artery arises from the distal portion of the aortic arch and travels posteriorly to the right foreleg
• 10% exhibit complete interruption of the aortic arch type B, in which the interruptions occur between the left carotid artery and the left subclavian artery
• 5% of embryos exhibit a right-sided aortic arch with a left-sided ductus arteriosus; the aortic arch is posterior to the esophagus and trachea
• in 9% of mutants, the innominate artery is unusually long (more than twice the normal) prior to the origin of the subclavian artery
• the left common carotid artery arises ectopically from the proximal ascending aorta in the 5% of embryos with right-sided aortic arch
• patent ductus arteriosus is seen in cases of complete interruption of the aortic arch
• a ventricular septal defect is seen in some mutants

endocrine/exocrine glands
• 5 of 7 mutants have no detectable parathyroid glands
• however, the thyroid gland is normal in size and shape

immune system
N
• unlike patients with VCFS/DGS that show absence or hypoplasia of the thymus, mutants at E18.5 have an intact and normal sized thymus with normal T cell populations

cellular
• patent ductus arteriosus is seen in cases of complete interruption of the aortic arch


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory