Phenotypes associated with this allele

• Allele Symbol: Qdpr^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:3529090
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Qdpr^tm1Lex/Qdpr^tm1Lex	involves: 129S/SvEvBrd * C57BL/6J	MGI:5620968

Genotype
MGI:5620968

hm1

• Allelic Composition: Qdpr^tm1Lex/Qdpr^tm1Lex
• Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

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

mortality/aging

lethality, incomplete penetrance ( J:216352 )

• mice are born in a ratio slightly less than the expected Mendelian ratios

• however, mice develop normally to adulthood and show no differences in appearance

homeostasis/metabolism

abnormal homeostasis ( J:216352 )

• 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) levels are greatly elevated in the kidney, lung, heart, and blood plasma but are normal in the liver and brain

• contents of dihydrobiopterin (BH2) and the fully oxidized form biopterin (BH2+BP) are increased in the liver and brain

• liver shows decreased levels of tetrahydrofolate (THF) and 5-methyltetrahydrofolate, but normal levels of dihydrofolate (DHF)

• levels of metabolites involved in folate metabolism are altered

increased circulating homocysteine level ( J:216352 )

• homocysteine levels are elevated by 40.9% at 40 weeks of age, but are normal at 16 weeks of age

abnormal neopterin level ( J:216352 )

• neopterin, an intermediate in BH4 de novo synthesis, levels are elevated in the liver and brain, indicating enhanced de novo synthesis of BH4

cellular

oxidative stress ( J:216352 )

• increase in oxidative stress in the liver