Mouse Genome Informatics
hm
    hph1/hph1
involves: C57BL/6 * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• homozygotes exhibit high levels (10-20 mg/dl) of phenylalanine in the blood compared to control levels of 2-4 mg/dl
• serum levels of nitric oxide and other NO species is lower than in wild-type

cardiovascular system
• percentage of smooth muscle area in all arteries is greater in hph1-deficient mice compared to controls with no change in lumen size with fewer non muscular vessels and more partially or fully muscular vessels in mutants
• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls
• the RV:LV + S ratio is higher in mutants; this is entirely due to the enlarged right ventricle as seen when indexed to body weight
• right ventricular pressure is significantly increased vs controls

respiratory system
• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls

digestive/alimentary system
• mutants have smaller, more distended stomachs than control: diameter of the pylorus is smaller than control

muscle
• pylorus has disproportionately thicker longitudinal, circular and muscularis mucosae layers than in wild-type mice; the hypertrophy begins ~age 10 days and is resolved by 180 days of age

Mouse Models of Human Disease
OMIM IDRef(s)
Phenylketonuria; PKU 261600 J:9146 , J:101792
Pyloric Stenosis, Infantile Hypertrophic, 1; IHPS1 179010 J:101792