Tbx1^tm2.1Bem
Targeted Allele Detail

Summary

• Symbol: Tbx1^tm2.1Bem
• Name: T-box 1; targeted mutation 2.1, Bernice E Morrow
• MGI ID: MGI:3619149
• Synonyms: Tbx1^flox, Tbx1^tm1.1Bem
• Gene: Tbx1 Location: Chr16:18399729-18409412 bp, - strand Genetic Position: Chr16, Syntenic
• Alliance: Tbx1^tm2.1Bem page

Fourth pharyngeal arch artery aplasia in Tbx1^tm2.1Bem/Tbx1⁺ Tfap2a^tm1(cre)Moon/Tfap2a⁺ mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105980
• Parent Cell Line: WW6 (ES Cell)
• Strain of Origin: STOCK 129/Sv and C57BL/6J and SJL

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Exons 2 and 3 were flanked with loxP sites. The ATG is in exon 2. (J:105980)

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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cn1	Tbx1^tm2.1Bem/Tbx1^tm2.1Bem H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	either: (involves: 129/Sv * C57BL/6 * C57BL/6J * CBA/J * SJL) or (involves: 129/Sv * C57BL/6J * CBA/J * CD-1 * SJL)
cn2	Tbx1^tm2.1Bem/Tbx1^+ Tfap2a^tm1(cre)Moon/Tfap2a^+	either: (involves: 129/Sv * C57BL/6 * C57BL/6J * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)
cn3	Tbx1^tm1Bld/Tbx1^tm2.1Bem Tfap2a^tm1(cre)Moon/Tfap2a^+	either: (involves: 129/Sv * C57BL/6 * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)
cn4  Disease Model	Tbx1^tm2.1Bem/Tbx1^tm2.2Bem Foxg1^tm1(cre)Skm/Foxg1^+	involves: 129 * C57BL/6J * SJL * Swiss Webster
cn5	Tbx1^tm2.1Bem/Tbx1^tm2.2Bem Tg(Pax2-cre)1Akg/0	involves: 129 * C57BL/6 * SJL

Phenotypes:

Affected Systems	cn1	cn2	cn3	cn4	cn5
show or hide all annotated terms
cardiovascular system		√	√	√
fourth pharyngeal arch artery hypoplasia		√
abnormal aortic arch morphology			√	√
aberrant origin of the right subclavian artery			√
retroesophageal right subclavian artery				√
abnormal cardiac outflow tract development			√	√
persistent truncus arteriosus			√	√
ventricular septal defect			√	√
craniofacial		√	√	√	N
craniofacial phenotype					N
fourth pharyngeal arch artery hypoplasia		√
abnormal craniofacial bone morphology				√
fusion of basioccipital and basisphenoid bone				√
temporal bone hypoplasia				√
absent zygomatic arch				√
hyoid bone hypoplasia				√
short mandible				√
absent middle ear ossicles				√
absent masseter muscle				√
absent pterygoid muscle				√
cleft palate			√
cleft secondary palate				√
absent outer ear				√
digestive/alimentary system			√	√
cleft palate			√
cleft secondary palate				√
embryo		√		√	N
embryo phenotype					N
fourth pharyngeal arch artery hypoplasia		√
abnormal pharyngeal pouch morphology				√
endocrine/exocrine glands			√	√
absent parathyroid glands				√
thymus hypoplasia			√
athymia			√	√
small thyroid gland				√
growth/size/body			√	√
absent masseter muscle				√
absent pterygoid muscle				√
cleft palate			√
cleft secondary palate				√
absent outer ear				√
hearing/vestibular/ear				√	√
absent middle ear ossicles				√
absent outer ear				√
abnormal middle ear development				√
small otic vesicle				√	√
otic vesicle hypoplasia				√	√
abnormal inner ear morphology					√
absent cochlea				√	√
absent semicircular canals				√	√
absent inner ear vestibule				√	√
abnormal endolymphatic duct morphology				√
otic capsule hypoplasia				√
absent inner ear				√	√
inner ear hypoplasia				√	√
absent tubotympanic recess				√
absent tympanic ring				√
increased or absent threshold for auditory brainstem response					√
sensorineural hearing loss					√
hematopoietic system			√	√
thymus hypoplasia			√
athymia			√	√
homeostasis/metabolism				√
skin edema				√
immune system			√	√
thymus hypoplasia			√
athymia			√	√
integument				√
skin edema				√
mortality/aging				√
neonatal lethality, complete penetrance				√
muscle				√
absent masseter muscle				√
absent pterygoid muscle				√
nervous system				√	√
abnormal vestibulocochlear ganglion morphology				√	√
respiratory system				√
pharynx hypoplasia				√
skeleton				√
abnormal craniofacial bone morphology				√
fusion of basioccipital and basisphenoid bone				√
temporal bone hypoplasia				√
absent zygomatic arch				√
hyoid bone hypoplasia				√
short mandible				√
absent middle ear ossicles				√
normal phenotype	√
no abnormal phenotype detected	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn4
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:	59 assay results 7 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	31 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tbx1 Mutation: 36 strains or lines available

References

• Original: J:105980 Arnold JS, et al., Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development. 2006 Mar;133(5):977-87
• All: 16 reference(s)