Phenotypes Associated with This Genotype

Genotype
MGI:4868120

• Allelic Composition: Dicer1^tm1Bdh/Dicer1^tm1Bdh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:166758 )

• die soon after E16.5

cardiovascular system

abnormal aortic arch development ( J:166758 )

• 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

persistent truncus arteriosus ( J:166758 )

• 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

ventricular septal defect ( J:166758 )

craniofacial

abnormal craniofacial morphology ( J:166758 )

• severe craniofacial defects are seen by E14.5

abnormal first pharyngeal arch morphology ( J:166758 )

• 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

abnormal first pharyngeal arch morphology ( J:166758 )

• 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

athymia ( J:166758 )

• thymus development is absent

immune system

athymia ( J:166758 )

• thymus development is absent

nervous system

abnormal sympathetic ganglion morphology ( J:166758 )

• loss of neural crest cell derived neuronal tissue from the thoracic sympathetic ganglia

abnormal dorsal root ganglion morphology ( J:166758 )

• loss of neural crest cell derived neuronal tissue from the dorsal root ganglia

skeleton

abnormal cartilage morphology ( J:166758 )

• 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

athymia ( J:166758 )

• thymus development is absent

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