Phenotypes associated with this allele

• Allele Symbol: Pcsk5^vcc
• Allele Name: VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation), caudal regression syndrome, and Currarino syndrome
• Allele ID: MGI:3795786
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcsk5^vcc/Pcsk5^vcc	involves: C57BL/6J	MGI:3797214
ht2	Pcsk5^tm2.1Prat/Pcsk5^vcc	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3797215

Genotype
MGI:3797214

hm1

• Allelic Composition: Pcsk5^vcc/Pcsk5^vcc
• Genetic Background: involves: C57BL/6J

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

cardiovascular system

right aortic arch ( J:136243 )

vascular ring ( J:136243 )

• mice exhibit an aortic vascular ring

patent ductus arteriosus ( J:136243 )

• hypoplastic arterial duct

abnormal heart morphology ( J:136243 )

• cardiac malformations

persistent truncus arteriosus ( J:136243 )

• common arterial trunk

double outlet right ventricle ( J:136243 )

atrial septal defect ( J:136243 )

dextrocardia ( J:136243 )

ventricular septal defect ( J:136243 )

skeleton

abnormal femur morphology ( J:136243 )

• severely hypoplastic

absent fibula ( J:136243 )

abnormal tibia morphology ( J:136243 )

• severely hypoplastic

absent patella ( J:136243 )

absent xiphoid process ( J:136243 )

abnormal pelvic girdle bone morphology ( J:136243 )

• severely hypoplastic

increased rib number ( J:136243 )

abnormal vertebral column morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column

absent caudal vertebrae ( J:136243 )

increased thoracic vertebrae number ( J:136243 )

• 18 instead of 13 thoracic vertebrae

absent sacral vertebrae ( J:136243 )

limbs/digits/tail

abnormal autopod morphology ( J:136243 )

• foot bones are not observed

abnormal forelimb morphology ( J:136243 )

• mildly hypoplastic

abnormal femur morphology ( J:136243 )

• severely hypoplastic

absent fibula ( J:136243 )

abnormal tibia morphology ( J:136243 )

• severely hypoplastic

absent patella ( J:136243 )

short hindlimb ( J:136243 )

absent caudal vertebrae ( J:136243 )

absent tail ( J:136243 )

digestive/alimentary system

abnormal palate morphology ( J:136243 )

• absent

absent anus ( J:136243 )

• the anus could no be identified

• the anorectal and bladder anatomy is distorted

tracheoesophageal fistula ( J:136243 )

abnormal rectum morphology ( J:136243 )

• the rectum could no be identified

• the anorectal and bladder anatomy is distorted

immune system

abnormal thymus lobule morphology ( J:136243 )

• lobes are separated unlike in wild-type mice

small thymus ( J:136243 )

nervous system

abnormal spinal cord morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column

renal/urinary system

absent kidney ( J:136243 )

abnormal urinary bladder morphology ( J:136243 )

• the anorectal and bladder anatomy is distorted

respiratory system

tracheoesophageal fistula ( J:136243 )

small lung ( J:136243 )

pulmonary hypoplasia ( J:136243 )

• in the left lung

hematopoietic system

abnormal thymus lobule morphology ( J:136243 )

• lobes are separated unlike in wild-type mice

small thymus ( J:136243 )

craniofacial

abnormal palate morphology ( J:136243 )

• absent

growth/size/body

abnormal palate morphology ( J:136243 )

• absent

omphalocele ( J:136243 )

endocrine/exocrine glands

abnormal thymus lobule morphology ( J:136243 )

• lobes are separated unlike in wild-type mice

small thymus ( J:136243 )

cellular

patent ductus arteriosus ( J:136243 )

• hypoplastic arterial duct

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
VACTERL association		DOID:14679	OMIM:192350 OMIM:276950	J:136243

Genotype
MGI:3797215

ht2

• Allelic Composition: Pcsk5^tm2.1Prat/Pcsk5^vcc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

cardiovascular system

vascular ring ( J:136243 )

• mice exhibit an aortic vascular ring

persistent truncus arteriosus ( J:136243 )

double outlet right ventricle ( J:136243 )

atrial septal defect ( J:136243 )

dextrocardia ( J:136243 )

ventricular septal defect ( J:136243 )

limbs/digits/tail

abnormal hindlimb morphology ( J:136243 )

absent tail ( J:136243 )

digestive/alimentary system

abnormal palate morphology ( J:136243 )

• absent

tracheoesophageal fistula ( J:136243 )

renal/urinary system

absent kidney ( J:136243 )

nervous system

abnormal spinal cord morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column

craniofacial

abnormal palate morphology ( J:136243 )

• absent

respiratory system

tracheoesophageal fistula ( J:136243 )

pulmonary hypoplasia ( J:136243 )

• in the left lung

skeleton

abnormal vertebral column morphology ( J:136243 )

• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column

growth/size/body

abnormal palate morphology ( J:136243 )

• absent

omphalocele ( J:136243 )