Phenotypes Associated with This Genotype

Genotype
MGI:5828522

• Allelic Composition: Ntmt1^{tm1(NCOM)Mfgc}/Ntmt1^{tm1(NCOM)Mfgc}
• Genetic Background: involves: C57BL/6J * C57BL/6NCrl

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

mortality/aging

premature death ( J:239287 )

• of the surviving mice, half die before 3 months of age

• the percentage of female mice surviving past 1 or 6 months is lower than the percentage of males

• however, some mice survive past 6 months

preweaning lethality, incomplete penetrance ( J:239287 )

• fewer than expected mice are produced

• 40% of mice die by 1 month of age

premature aging ( J:239287 )

♂ • male mice surviving past 6 months exhibit phenotypes associated with older mice: hair loss, occasional premature graying and kyphosis

reproductive system

reproductive system phenotype ( J:239287 )

♂N • male mice exhibit normal fertility

absent corpus luteum ( J:239287 )

♀

small ovary ( J:239287 )

♀

ovary cyst ( J:239287 )

♀

anovulation ( J:239287 )

♀ • indicated by a lack of a corpus luteum

female infertility ( J:239287 )

♀

integument

abnormal skin vasculature morphology ( J:239287 )

• at 6 months, skin blood vessels are smaller compared to in wild-type mice

premature hair loss ( J:239287 )

♂ • with occasional premature graying in male mice surviving past 6 months

thin epidermis ( J:239287 )

• at 3 months

skin fibrosis ( J:239287 )

• increase in narrowly spaced, thick collagen bundles that are reminiscent of skin fibrosis

cardiovascular system

abnormal skin vasculature morphology ( J:239287 )

• at 6 months, skin blood vessels are smaller compared to in wild-type mice

liver/biliary system

abnormal liver morphology ( J:239287 )

• in mice that die before 3 months of age

• however, male mice exhibit normal livers at 3 and 6 months

liver degeneration ( J:239287 )

• in mice that die before 3 months of age

• however, male mice exhibit normal livers at 3 and 6 months

growth/size/body

ovary cyst ( J:239287 )

♀

decreased body size ( J:239287 )

decreased body weight ( J:239287 )

• in male and female mice at 3 weeks and 3 months

cellular

increased cellular sensitivity to oxidative stress ( J:239287 )

• in mouse embryonic fibroblasts

abnormal mitochondrial physiology ( J:239287 )

• liver mitochondria exhibit decreased proton leak and State 3 respiration with reduced maximum mitochondrial respiration in the non-coupled state of the electron transfer system compared with wild-type mitochondria

oxidative stress ( J:239287 )

• livers produce less reactive oxygen species compared with wild-type livers

endocrine/exocrine glands

absent corpus luteum ( J:239287 )

♀

small ovary ( J:239287 )

♀

ovary cyst ( J:239287 )

♀

skeleton

kyphosis ( J:239287 )

• in some young mice

• in male mice surviving past 6 months