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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tbx1m1Jlk
spontaneous mutation 1, John Klingensmith
MGI:3841191
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tbx1m1Jlk/Tbx1m1Jlk 129/Sv-Tbx1m1Jlk MGI:3841291
ht2
 		Tbx1m1Jlk/Tbx1+ 129/Sv-Tbx1m1Jlk MGI:3841290
ht3
 		Tbx1m1Jlk/Tbx1tm1Bld involves: 129 MGI:3841292
cx4
 		Chrdtm1Emdr/Chrdtm1Emdr
Tbx1m1Jlk/Tbx1m1Jlk 		129/Sv-Tbx1m1Jlk Chrdtm1Emdr MGI:3841289


Genotype
MGI:3841291
hm1
Allelic
Composition		 Tbx1m1Jlk/Tbx1m1Jlk
Genetic
Background		 129/Sv-Tbx1m1Jlk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1m1Jlk mutation (0 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal pharyngeal arch artery morphology ( J:146769 )
• dysmorphic aortic arch arteries
• 100% penetrance
cleft palate ( J:146769 )
• 60% penetrance
abnormal outer ear morphology ( J:146769 )
• malformed
• 20% penetrance

hematopoietic system
athymia ( J:146769 )
• 90% penetrance

cardiovascular system
abnormal pharyngeal arch artery morphology ( J:146769 )
• dysmorphic aortic arch arteries
• 100% penetrance
persistent truncus arteriosus ( J:146769 )
• 100% penetrance

digestive/alimentary system
cleft palate ( J:146769 )
• 60% penetrance

hearing/vestibular/ear
abnormal outer ear morphology ( J:146769 )
• malformed
• 20% penetrance

immune system
athymia ( J:146769 )
• 90% penetrance

embryo
abnormal pharyngeal arch artery morphology ( J:146769 )
• dysmorphic aortic arch arteries
• 100% penetrance

endocrine/exocrine glands
athymia ( J:146769 )
• 90% penetrance

growth/size/body
cleft palate ( J:146769 )
• 60% penetrance
abnormal outer ear morphology ( J:146769 )
• malformed
• 20% penetrance




Genotype
MGI:3841290
ht2
Allelic
Composition		 Tbx1m1Jlk/Tbx1+
Genetic
Background		 129/Sv-Tbx1m1Jlk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1m1Jlk mutation (0 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:3841292
ht3
Allelic
Composition		 Tbx1m1Jlk/Tbx1tm1Bld
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1m1Jlk mutation (0 available); any Tbx1 mutation (36 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal pharyngeal arch artery morphology ( J:146769 )
• dysmorphic aortic arch arteries
• 100% penetrance
cleft palate ( J:146769 )
• 50% penetrance
abnormal outer ear morphology ( J:146769 )
• malformed
• 60% penetrance

hematopoietic system
athymia ( J:146769 )
• 100% penetrance

cardiovascular system
abnormal pharyngeal arch artery morphology ( J:146769 )
• dysmorphic aortic arch arteries
• 100% penetrance
persistent truncus arteriosus ( J:146769 )
• 100% penetrance

digestive/alimentary system
cleft palate ( J:146769 )
• 50% penetrance

hearing/vestibular/ear
abnormal outer ear morphology ( J:146769 )
• malformed
• 60% penetrance

immune system
athymia ( J:146769 )
• 100% penetrance

embryo
abnormal pharyngeal arch artery morphology ( J:146769 )
• dysmorphic aortic arch arteries
• 100% penetrance

endocrine/exocrine glands
athymia ( J:146769 )
• 100% penetrance

growth/size/body
cleft palate ( J:146769 )
• 50% penetrance
abnormal outer ear morphology ( J:146769 )
• malformed
• 60% penetrance




Genotype
MGI:3841289
cx4
Allelic
Composition		 Chrdtm1Emdr/Chrdtm1Emdr
Tbx1m1Jlk/Tbx1m1Jlk
Genetic
Background		 129/Sv-Tbx1m1Jlk Chrdtm1Emdr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chrdtm1Emdr mutation (1 available); any Chrd mutation (49 available)
Tbx1m1Jlk mutation (0 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
short mandible ( J:146769 )
• mandibular truncation with a penetrance of about 20%
cleft palate ( J:146769 )
• 100% penetrance
abnormal outer ear morphology ( J:146769 )
• malformed
• 100% penetrance

hematopoietic system
athymia ( J:146769 )
• 100% penetrance

cardiovascular system
persistent truncus arteriosus ( J:146769 )
• 100% penetrance

skeleton
short mandible ( J:146769 )
• mandibular truncation with a penetrance of about 20%

digestive/alimentary system
cleft palate ( J:146769 )
• 100% penetrance

hearing/vestibular/ear
abnormal outer ear morphology ( J:146769 )
• malformed
• 100% penetrance

immune system
athymia ( J:146769 )
• 100% penetrance

endocrine/exocrine glands
athymia ( J:146769 )
• 100% penetrance

growth/size/body
cleft palate ( J:146769 )
• 100% penetrance
abnormal outer ear morphology ( J:146769 )
• 100% penetrance
• malformed




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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory