Mouse Genome Informatics
hm
    Pcsk5vcc/Pcsk5vcc
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• mice exhibit an aortic vascular ring
• hypoplastic arterial duct
• cardiac malformations
• common arterial trunk

skeleton
• severely hypoplastic
• severely hypoplastic
• mice exhibit a presacral mass protruding ventrally from the caudal end of the spinal cord and vertebral column
• 18 instead of 13 thoracic vertebrae

limbs/digits/tail
• foot bones are not observed
• mildly hypoplastic
• severely hypoplastic
• severely hypoplastic

digestive/alimentary system
• the anus could no be identified
• the anorectal and bladder anatomy is distorted
• the rectum could no be identified
• the anorectal and bladder anatomy is distorted

immune system
• lobes are separated unlike in wild-type mice

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

renal/urinary system
• the anorectal and bladder anatomy is distorted

respiratory system
• in the left lung

hematopoietic system
• lobes are separated unlike in wild-type mice

craniofacial

growth/size

endocrine/exocrine glands
• lobes are separated unlike in wild-type mice

cellular
• hypoplastic arterial duct

Mouse Models of Human Disease
OMIM IDRef(s)
Vacterl Association with Hydrocephalus 276950 J:136243