Phenotypes Associated with This Genotype

Genotype
MGI:7472251

• Allelic Composition: Smim20^em1(IMPC)J/Smim20^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Smim20^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Smim20

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

behavior/neurological

decreased anxiety-related response ( J:350521 )

♀ • in the open field test box, female mice travel 64% of the wild-type distance in the outer zone, suggesting alterations in anxiety behavior

♀ • however, the time spent in the outer and inner zone is similar to than in wild-type controls

decreased locomotor activity ( J:350521 )

♀ • in the open field test box, female mice show a significant decrease in total distance traveled relative to wild-type controls

cardiovascular system

prolonged QRS complex duration ( J:211773 )

♂

IMPC - JAX

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:350521 )

N • after 18 weeks on a high-fat diet (HFD), male homozygotes show no differences in weight gain relative to HFD-fed wild-type or heterozygous males

N • HFD-fed female homozygotes show normal weight gain relative to HFD-fed heterozygous females

N • HFD-fed male homozygotes show normal insulin sensitivity relative to HFD-fed wild-type males

abnormal energy homeostasis ( J:350521 )

• male, but not female, chow-fed mice show changes in energy homeostasis-related genes, including reduced hypothalamic mRNA expression of Mc4r and Per2, and increased hypothalamic mRNA expression of Cpe, Galr2 and Qrfpr (also known as Gpr103)

• despite normal weight gain, HFD-fed female homozygotes show reduced hypothalamic mRNA expression of several energy homeostasis genes, including Insr, Lepr, and Npy5r

• both HFD-fed male and female homozygotes show reduced hypothalamic mRNA expression of Crhr1, suggesting possible changes in the hypothalamic-pituitary-adrenal axis

immune system

immune system phenotype ( J:350521 )

N • in culture, primary hypothalamic cells show normal induction of pro-inflammatory markers in response to LPS exposure

reproductive system

reproductive system phenotype ( J:350521 )

N • KO x KO breeding pairs result in normal average litter size and produce a normal number of litters within 3 months of mating, indicating normal fertility

N • both sexes show normal hypothalamic expression of reproduction-related genes (Gnrh1, Kiss1, Esr1, Esr2 and Gpr54) relative to wild-type controls

N • surprisingly, females exhibit normal estrous cycle length at 14 weeks of age