Phenotypes associated with this allele

• Allele Symbol: Nthl1^tm1Tbor
• Allele Name: targeted mutation 1, George W Teebor
• Allele ID: MGI:2446391
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nthl1^tm1Tbor/Nthl1^tm1Tbor	involves: 129X1/SvJ * C57BL/6	MGI:3512110

Genotype
MGI:3512110

hm1

• Allelic Composition: Nthl1^tm1Tbor/Nthl1^tm1Tbor
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

homeostasis/metabolism

abnormal DNA repair ( J:78429 )

• various tissues of adult homozygotes (brain, thymus, and liver) contain a novel enzymatic activity which cleaves DNA at sites of oxidized thymine residues (thymine glycol [Tg]; the highest specific activity is observed in the thymus

• this novel repair enzyme activity is greater when Tg is paired with G but also repairs Tg:A pairs

• authors suggest that there is a back-up mammalian repair activity which attacks Tg:G pairs with much greater efficiency than Tg:A pairs, and functions in maintaining the integrity of methylated DNA

neoplasm

neoplasm ( J:78429 )

N • at 2 years of age, homozygotes show no evidence of spontaneous tumorigenesis relative to wild-type mice

behavior/neurological

behavior/neurological phenotype ( J:78429 )

N • homozygotes show no signs of neurological deficits as judged grossly by observation of their activity, locomotion, and startle response to sudden noise

cellular

cellular phenotype ( J:78429 )

N • in vitro, primary mutant thymocytes do not manifest an increase in apoptotic response after exposure to either aerobic ionizing radiation or hydrogen peroxide

abnormal DNA repair ( J:78429 )

• various tissues of adult homozygotes (brain, thymus, and liver) contain a novel enzymatic activity which cleaves DNA at sites of oxidized thymine residues (thymine glycol [Tg]; the highest specific activity is observed in the thymus

• this novel repair enzyme activity is greater when Tg is paired with G but also repairs Tg:A pairs

• authors suggest that there is a back-up mammalian repair activity which attacks Tg:G pairs with much greater efficiency than Tg:A pairs, and functions in maintaining the integrity of methylated DNA