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Phenotypes Associated with This Genotype
Genotype
MGI:3639091
Allelic
Composition
hph1/hph1
Genetic
Background
involves: C57BL/6 * CBA/Ca
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No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
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 (J:9146)
• homozygotes exhibit high levels (10-20 mg/dl) of phenylalanine in the blood compared to control levels of 2-4 mg/dl (J:9146)
• serum levels of nitric oxide and other NO species is lower than in wild-type (J:109694)
• serum levels of nitric oxide and other NO species is lower than in wild-type (J:109694)

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 (J:109694)
• 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 (J:109694)
• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls (J:109694)
• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls (J:109694)
• 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 (J:109694)
• 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 (J:109694)
• right ventricular pressure is significantly increased vs controls (J:109694)
• right ventricular pressure is significantly increased vs controls (J:109694)

respiratory system
• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls (J:109694)
• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls (J:109694)

digestive/alimentary system
• mutants have smaller, more distended stomachs than control: diameter of the pylorus is smaller than control (J:101792)
• mutants have smaller, more distended stomachs than control: diameter of the pylorus is smaller than control (J:101792)

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 (J:101792)
• 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 (J:101792)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory