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Phenotypes Associated with This Genotype
Genotype
MGI:3623923
Allelic
Composition
Del(16Es2el-Ufd1l)217Bld/+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(16Es2el-Ufd1l)217Bld mutation (1 available); any Del(16Es2el-Ufd1l)217Bld mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• 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)
• undetectable fourth arch arteries in some embryos

cardiovascular system
• 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)
• undetectable fourth arch arteries in some embryos
• aberrant origin of the right subclavian artery from the pulmonary trunk
• most frequent abnormality is a retroesophageal right subclavian artery, which originates from the descending aorta, dorsal to the emergence of the left subclavian artery
• some embryos have interrupted aortic arch type B (IAA-B)
• 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
• some embryos have a ventricular septal defect
• infundibular pulmonary stenosis in some embryos

craniofacial
• 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)
• undetectable fourth arch arteries in some embryos

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

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


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
09/05/2019
MGI 6.14
The Jackson Laboratory