Phenotypes associated with this allele

• Allele Symbol: +
• Allele Name: wild type
• Allele ID: MGI:2677671
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(16Es2el-Ufd1l)217Bld/+	B6.129S7-Del(16Es2el-Ufd1l)217Bld	MGI:5451004
ht2	Del(16Es2el-Ufd1l)217Bld/+	B6.Cg-Tyr^c-Brd Del(16Es2el-Ufd1l)217Bld	MGI:3640304
ht3	Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd	MGI:3713507
ht4	Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3623923
cx5	Del(16Es2el-Sept5)3Bld/+ Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd	MGI:3713489

Genotype
MGI:5451004

ht1

• Allelic Composition: Del(16Es2el-Ufd1l)217Bld/+
• Genetic Background: B6.129S7-Del(16Es2el-Ufd1l)217Bld

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

nervous system

abnormal neuronal migration ( J:201966 )

• abnormal distribution of interneurons indicates a defect in migration

• apparent delay in the migration of dentate precursors to the dentate gyrus subpial zone

• decrease in the chemotactic response to CXCL12 of cultured dentate gyrus derived cells

abnormal neuron proliferation ( J:201966 )

• decrease in proliferation of granule cells in the hippocampal dentate gyrus but not in the dentate ventricular zone or the fimbrio-dentate junction at E18.5

abnormal brain interneuron morphology ( J:201966 )

• distribution is altered at E18.5 with fewer found in the marginal zone and more found in the deep cortical plate

• decrease in the number PV+ interneurons in the medial prefrontal cortex at 1 month of age

decreased dentate gyrus size ( J:201966 )

• decrease in volume at P0

enhanced long-term potentiation ( J:190908 )

• in mature (16-20 weeks of age) but not in young (8-10 weeks of age) mice

• increased by over 200% in CA3 and CA1 pyramidal neurons in mature mice

• however, basal synaptic transmission is normal

cellular

abnormal neuronal migration ( J:201966 )

• abnormal distribution of interneurons indicates a defect in migration

• apparent delay in the migration of dentate precursors to the dentate gyrus subpial zone

• decrease in the chemotactic response to CXCL12 of cultured dentate gyrus derived cells

abnormal neuron proliferation ( J:201966 )

• decrease in proliferation of granule cells in the hippocampal dentate gyrus but not in the dentate ventricular zone or the fimbrio-dentate junction at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 22q11.2 deletion syndrome, distal		DOID:0060413	OMIM:611867	J:190908 , J:201966

Genotype
MGI:3640304

ht2

• Allelic Composition: Del(16Es2el-Ufd1l)217Bld/+
• Genetic Background: B6.Cg-Tyr^c-Brd Del(16Es2el-Ufd1l)217Bld

nervous system

decreased prepulse inhibition ( J:110101 )

• PPI is significantly impaired; mice have reduced PPI

Genotype
MGI:3713507

ht3

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

reproductive system

reproductive system phenotype ( J:110378 )

N • mice are fertile

cardiovascular system

fourth pharyngeal arch artery hypoplasia ( J:110378 )

• hypoplastic at E10.5

• however, arteries normalize during development

craniofacial

fourth pharyngeal arch artery hypoplasia ( J:110378 )

• hypoplastic at E10.5

• however, arteries normalize during development

embryo

fourth pharyngeal arch artery hypoplasia ( J:110378 )

• hypoplastic at E10.5

• however, arteries normalize during development

Genotype
MGI:3623923

ht4

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

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

Genotype
MGI:3713489

cx5

• Allelic Composition: Del(16Es2el-Sept5)3Bld/+; Del(16Es2el-Ufd1l)217Bld/+
• Genetic Background: involves: 129S7/SvEvBrd

cardiovascular system

cardiovascular system phenotype ( J:67409 )

N • no cardiovascular defects similar to those in other deletions are observed