Phenotypes Associated with This Genotype

Genotype
MGI:5615576

• Allelic Composition: Qsox1^b2b2673Clo/Qsox1^b2b2673Clo
• Genetic Background: C57BL/6J-Qsox1^b2b2673Clo

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

Mutant (E16.5) exhibits persistent truncus arteriosis (PTA) which was confirmed by ECM histopathology.

cardiovascular system

vascular ring ( J:175213 )

abnormal left subclavian artery morphology ( J:175213 )

persistent truncus arteriosus ( J:175213 )

atrioventricular septal defect ( J:175213 )

limbs/digits/tail

polydactyly ( J:175213 )

preaxial polydactyly ( J:175213 )

• preaxial digit duplication on all four limbs

craniofacial

micrognathia ( J:175213 )

cleft palate ( J:175213 )

short snout ( J:175213 )

skeleton

micrognathia ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

tracheoesophageal fistula ( J:175213 )

respiratory system

tracheoesophageal fistula ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

growth/size/body

cleft palate ( J:175213 )

short snout ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
VACTERL association		DOID:14679	OMIM:192350 OMIM:276950	J:175213