Phenotypes associated with this allele

• Allele Symbol: Dync2h1^b2b414Clo
• Allele Name: Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo
• Allele ID: MGI:5311370
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dync2h1^b2b414Clo/Dync2h1^b2b414Clo	C57BL/6J-Dync2h1^b2b414Clo	MGI:5311880

Genotype
MGI:5311880

hm1

• Allelic Composition: Dync2h1^b2b414Clo/Dync2h1^b2b414Clo
• Genetic Background: C57BL/6J-Dync2h1^b2b414Clo

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

Pulmonary atresia with MAPCAs and duplicated IVC.

cardiovascular system

aorta pulmonary collateral arteries ( J:175213 )

abnormal inferior vena cava morphology ( J:175213 )

• dual inferior vena cavae (IVC)

abnormal coronary vessel morphology ( J:175213 )

coronary fistula ( J:175213 )

common atrium ( J:175213 )

• Common atrium

complete atrioventricular septal defect ( J:175213 )

• both balanced complete atrioventricular canal and unbalanced complete atrioventricular canal, left dominant

balanced complete atrioventricular canal ( J:175213 )

unbalanced complete atrioventricular canal, left dominant ( J:175213 )

craniofacial

abnormal craniofacial morphology ( J:175213 )

micrognathia ( J:175213 )

abnormal mouth morphology ( J:175213 )

digestive/alimentary system

tracheoesophageal fistula ( J:175213 )

limbs/digits/tail

abnormal autopod morphology ( J:175213 )

• Hand and/or foot anomaly

polydactyly ( J:175213 )

syndactyly ( J:175213 )

nervous system

holoprosencephaly ( J:175213 )

renal/urinary system

absent kidney ( J:175213 )

duplex kidney ( J:175213 )

respiratory system

abnormal respiratory system morphology ( J:175213 )

• Airway malformation

aorta pulmonary collateral arteries ( J:175213 )

tracheoesophageal fistula ( J:175213 )

abnormal lung lobe morphology ( J:175213 )

• single lung lobe

skeleton

micrognathia ( J:175213 )

vision/eye

abnormal eye morphology ( J:175213 )

• Opthalmic malformation

ocular hypotelorism ( J:175213 )

growth/size/body

abnormal mouth morphology ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
asphyxiating thoracic dystrophy 3		DOID:0110087	OMIM:613091	J:175213
VACTERL association		DOID:14679	OMIM:192350 OMIM:276950	J:175213