Del(16Es2el-Ufd1l)217Bld
Targeted Allele Detail

Summary

• Symbol: Del(16Es2el-Ufd1l)217Bld
• Name: deletion, Chr 16, Antonio Baldini 217
• MGI ID: MGI:3623881
• Synonyms: del(16) (Es2-Ufd1l), Del217Bld, Df1, Df(16)1
• Gene: Del(16Es2el-Ufd1l)217Bld Location: unknown Genetic Position: Chr16, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:57757
• Parent Cell Line: AB2.1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Intergenic deletion, Intragenic deletion
• Mutation details: A proximal loxP site was targeted into the Es2el gene. The targeting vector replaced a 200-bp fragment containing exon 4. A second loxP site was targeted into the Ufd1l gene, replacing a 4.5-kb fragment containing exons 2-3. Transient expression of Cre resulted in the deletion of 1.2 Mb extending distally from Es2el to Ufd1l, recapitulating the human deletion del22q11 associated with DiGeorge syndrome. (J:57757)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Del(16Es2el-Ufd1l)217Bld/Del(16Es2el-Ufd1l)217Bld	involves: 129S7/SvEvBrd * C57BL/6
ht2  Disease Model	Del(16Es2el-Ufd1l)217Bld/+	B6.129S7-Del(16Es2el-Ufd1l)217Bld
ht3	Del(16Es2el-Ufd1l)217Bld/+	B6.Cg-Tyr^c-Brd Del(16Es2el-Ufd1l)217Bld
ht4	Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd
ht5  Disease Model	Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd * C57BL/6
cx6	Tbx1^tm1Bld/Del(16Es2el-Ufd1l)217Bld	involves: 129S5/SvEvBrd * 129S7/SvEvBrd * C57BL/6
cx7	Dp(16Dgcr14-Sept5)3Bld/Del(16Es2el-Ufd1l)217Bld	involves: 129S7/SvEvBrd
cx8	Del(16Es2el-Sept5)3Bld/+ Del(16Es2el-Ufd1l)217Bld/+	involves: 129S7/SvEvBrd
cx9	Tbx1^tm1Bld/Del(16Es2el-Ufd1l)217Bld	involves: 129S7/SvEvBrd

Phenotypes:

Affected Systems	hm1	ht2	ht3	ht4	ht5	cx6	cx7	cx8	cx9
show or hide all annotated terms
cardiovascular system				√	√	√	N	N	√
cardiovascular system phenotype							N	N
abnormal dorsal aorta morphology						√
abnormal fourth pharyngeal arch artery morphology					√				√
absent fourth pharyngeal arch artery					√	√
fourth pharyngeal arch artery hypoplasia				√
abnormal second pharyngeal arch artery morphology						√
abnormal sixth pharyngeal arch artery morphology									√
absent sixth pharyngeal arch artery						√
abnormal third pharyngeal arch artery morphology									√
absent third pharyngeal arch artery						√
aberrant origin of the right subclavian artery					√
retroesophageal right subclavian artery					√
interrupted aortic arch, type b					√
abnormal heart morphology					√
overriding aortic valve					√
ventricular septal defect					√
heart right ventricle outflow tract stenosis					√
cellular		√
abnormal neuronal migration		√
abnormal neuron proliferation		√
craniofacial				√	√	√			√
abnormal fourth pharyngeal arch artery morphology					√				√
absent fourth pharyngeal arch artery					√	√
fourth pharyngeal arch artery hypoplasia				√
abnormal second pharyngeal arch artery morphology						√
abnormal sixth pharyngeal arch artery morphology									√
absent sixth pharyngeal arch artery						√
abnormal third pharyngeal arch artery morphology									√
absent third pharyngeal arch artery						√
absent fourth pharyngeal arch						√
small second pharyngeal arch									√
absent sixth pharyngeal arch						√
absent third pharyngeal arch						√
embryo				√	√	√			√
abnormal fourth pharyngeal arch artery morphology					√				√
absent fourth pharyngeal arch artery					√	√
fourth pharyngeal arch artery hypoplasia				√
abnormal second pharyngeal arch artery morphology						√
abnormal sixth pharyngeal arch artery morphology									√
absent sixth pharyngeal arch artery						√
abnormal third pharyngeal arch artery morphology									√
absent third pharyngeal arch artery						√
absent fourth pharyngeal arch						√
small second pharyngeal arch									√
absent sixth pharyngeal arch						√
absent third pharyngeal arch						√
homeostasis/metabolism					N
homeostasis/metabolism phenotype					N
immune system					N
immune system phenotype					N
mortality/aging	√				√
neonatal lethality, incomplete penetrance					√
prenatal lethality, complete penetrance	√
nervous system		√	√
abnormal neuronal migration		√
abnormal neuron proliferation		√
abnormal brain interneuron morphology		√
decreased dentate gyrus size		√
enhanced long-term potentiation		√
decreased prepulse inhibition			√
reproductive system				N
reproductive system phenotype				N

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht2	ht5
chromosome 22q11.2 deletion syndrome, distal IDs chromosome 22q11.2 deletion syndrome, distal       DOID:0060413 MESH:C567511 OMIM:611867 ORDO:261330 Close	√	√
DiGeorge syndrome IDs DiGeorge syndrome       DOID:11198 ICD10CM:D82.1 ICD9CM:279.11 MESH:D004062 NCI:C2989 OMIM:188400 UMLS_CUI:C0012236 Close		√

Expression

In Mice Carrying this Mutation:	136 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Del(16Es2el-Ufd1l)217Bld Mutation: 1 strain or line available

References

• Original: J:57757 Lindsay EA, et al., Congenital heart disease in mice deficient for the DiGeorge syndrome region [see comments]. Nature. 1999 Sep 23;401(6751):379-83
• All: 29 reference(s)