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Phenotypes Associated with This Genotype
Genotype
MGI:4868120
Allelic
Composition
Dicer1tm1Bdh/Dicer1tm1Bdh
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129 * C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (4 available); any Dicer1 mutation (92 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• discontinuance of the ascending aortic arch with the descending aorta, indicating improper pattering of the aortic arch due to a left fourth aortic arch defect
• the outflow tract does not fully septate into a pulmonary artery and aorta in some cases, resulting in the persistence of a common outflow vessel

craniofacial
• severe craniofacial defects are seen by E14.5
• although pharyngeal arches appear similar to wild-type in emergence, size and shape, expression of Dlx2 and Fgf8 are downregulated in pharyngeal arch 1
• apoptosis is increased in the first pharyngeal arch at E11.5

embryo
• although pharyngeal arches appear similar to wild-type in emergence, size and shape, expression of Dlx2 and Fgf8 are downregulated in pharyngeal arch 1
• apoptosis is increased in the first pharyngeal arch at E11.5

hematopoietic system
• thymus development is absent

immune system
• thymus development is absent

nervous system
• loss of neural crest cell derived neuronal tissue from the thoracic sympathetic ganglia
• loss of neural crest cell derived neuronal tissue from the dorsal root ganglia

skeleton
• neural crest cell derived maxillary and mandibular regions of the face and frontonasal process lack cartilaginous tissue, however mesodermally derived cartilage near the base of the skull is present

endocrine/exocrine glands
• thymus development is absent

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:166758


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