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Phenotypes Associated with This Genotype
Genotype
MGI:3037863
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Tbx1-cre)1Joe/0
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (18 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (18 available)
Tg(Tbx1-cre)1Joe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die between E18.5 and P1

cardiovascular system
N
• some defects observed as a result of Tbx1-deficiency, including those involving the aortic arch, were not observed
• exhibit variable cardiovascular patterning defects listed below
• duplication of the internal carotid arteries
• impaired differentiation in the great vessels
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle
• Tetrology of Fallot
• atrial septal defects
• ventricular septal defects

immune system
• some exhibit a single lobed thymus

muscle
• impaired differentiation in the great vessels
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle

hematopoietic system
• some exhibit a single lobed thymus

endocrine/exocrine glands
• some exhibit a single lobed thymus

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:88814


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
05/28/2024
MGI 6.13
The Jackson Laboratory