Phenotypes associated with this allele

• Allele Symbol: hph1
• Allele Name: hyperphenylalaninemia 1
• Allele ID: MGI:1856903
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	hph1/hph1	involves: C57BL/6 * CBA/Ca	MGI:3639091

Genotype
MGI:3639091

hm1

• Allelic Composition: hph1/hph1
• Genetic Background: involves: C57BL/6 * CBA/Ca

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

homeostasis/metabolism

increased circulating phenylalanine level ( J:9146 )

• homozygotes exhibit high levels (10-20 mg/dl) of phenylalanine in the blood compared to control levels of 2-4 mg/dl

abnormal nitric oxide homeostasis ( J:109694 )

• serum levels of nitric oxide and other NO species is lower than in wild-type

cardiovascular system

abnormal artery morphology ( 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

abnormal lung vasculature morphology ( J:109694 )

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

increased heart right ventricle 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

abnormal cardiovascular system physiology ( J:109694 )

• right ventricular pressure is significantly increased vs controls

respiratory system

abnormal lung vasculature morphology ( J:109694 )

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

digestive/alimentary system

small stomach ( J:101792 )

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

muscle

abnormal smooth muscle morphology ( 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic pyloric stenosis		DOID:12638	OMIM:179010 OMIM:300711 OMIM:610260 OMIM:612017 OMIM:612525	J:101792
phenylketonuria		DOID:9281	OMIM:261600	J:9146 , J:101792