Phenotypes Associated with This Genotype

Genotype
MGI:5505393

• Allelic Composition: Ndst1^b2b2230Clo/Ndst1^b2b2230Clo
• Genetic Background: C57BL/6J-Ndst1^b2b2230Clo

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

Mutant 2230-003-1 (E16.5) exhibits mesocardia and hypoplastic thymus

cardiovascular system

interrupted aortic arch ( J:175213 )

right aortic arch ( J:175213 )

vascular ring ( J:175213 )

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

persistent truncus arteriosus ( J:175213 )

atrioventricular septal defect ( J:175213 )

craniofacial

absent mandible ( J:175213 )

decreased mouth size ( J:175213 )

proboscis ( J:175213 )

lowered ear position ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

decreased mouth size ( J:175213 )

proboscis ( J:175213 )

lowered ear position ( J:175213 )

omphalocele ( J:175213 )

kidney cyst ( J:175213 )

heterotaxia ( J:175213 )

hearing/vestibular/ear

lowered ear position ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

nervous system

anencephaly ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

hydronephrosis ( J:175213 )

skeleton

absent mandible ( J:175213 )

vision/eye

anophthalmia ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:175213