Phenotypes Associated with This Genotype

Genotype
MGI:3623923

• Allelic Composition: Del(16Es2el-Ufd1l)217Bld/+
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:57757 )

• 10.4% die at birth

embryo

abnormal fourth pharyngeal arch artery morphology ( J:57757 , J:67409 )

• 45% of embryos have either undetectable fourth arch arteries or reduced size of fourth arch arteries (J:57757)

• however, mice do not exhibit craniofacial defects such as cleft palate (J:57757)

• abnormal in all embryos at E10.5 (J:67409)

absent fourth pharyngeal arch artery ( J:57757 )

• undetectable fourth arch arteries in some embryos

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:57757 , J:67409 )

• 45% of embryos have either undetectable fourth arch arteries or reduced size of fourth arch arteries (J:57757)

• however, mice do not exhibit craniofacial defects such as cleft palate (J:57757)

• abnormal in all embryos at E10.5 (J:67409)

absent fourth pharyngeal arch artery ( J:57757 )

• undetectable fourth arch arteries in some embryos

aberrant origin of the right subclavian artery ( J:57757 )

• aberrant origin of the right subclavian artery from the pulmonary trunk

retroesophageal right subclavian artery ( J:57757 )

• most frequent abnormality is a retroesophageal right subclavian artery, which originates from the descending aorta, dorsal to the emergence of the left subclavian artery

interrupted aortic arch, type b ( J:57757 )

• some embryos have interrupted aortic arch type B (IAA-B)

abnormal heart morphology ( J:57757 )

• 26% of E18.5 embryos and 18% of adults exhibit cardiovascular abnormalities in various combinations, however none exhibit persistent truncus arteriosus or tetralogy of Fallot

overriding aortic valve ( J:57757 )

ventricular septal defect ( J:57757 )

• some embryos have a ventricular septal defect

heart right ventricle outflow tract stenosis ( J:57757 )

• infundibular pulmonary stenosis in some embryos

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:57757 , J:67409 )

• 45% of embryos have either undetectable fourth arch arteries or reduced size of fourth arch arteries (J:57757)

• however, mice do not exhibit craniofacial defects such as cleft palate (J:57757)

• abnormal in all embryos at E10.5 (J:67409)

absent fourth pharyngeal arch artery ( J:57757 )

• undetectable fourth arch arteries in some embryos

immune system

immune system phenotype ( J:57757 )

N • normal numbers of B and T cells at 2-6 months of age and a normal thymus

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:57757 )

N • normal serum levels of calcium, phosphorus, and parathyroid hormone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 22q11.2 deletion syndrome, distal		DOID:0060413	OMIM:611867	J:57757
DiGeorge syndrome		DOID:11198	OMIM:188400	J:57757