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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smim20em1(IMPC)J
endonuclease-mediated mutation 1, Jackson
MGI:6317363
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Smim20em1(IMPC)J/Smim20em1(IMPC)J C57BL/6NJ-Smim20em1(IMPC)J/Mmjax MGI:7472251
ht2
Smim20em1(IMPC)J/Smim20+ C57BL/6NJ-Smim20em1(IMPC)J/Mmjax MGI:7664404


Genotype
MGI:7472251
hm1
Allelic
Composition
Smim20em1(IMPC)J/Smim20em1(IMPC)J
Genetic
Background
C57BL/6NJ-Smim20em1(IMPC)J/Mmjax
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smim20em1(IMPC)J mutation (2 available); any Smim20 mutation (6 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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
• in the open field test box, female mice show a significant decrease in total distance traveled relative to wild-type controls

cardiovascular system

homeostasis/metabolism
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
• HFD-fed female homozygotes show normal weight gain relative to HFD-fed heterozygous females
• HFD-fed male homozygotes show normal insulin sensitivity relative to HFD-fed wild-type males
• 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
N
• in culture, primary hypothalamic cells show normal induction of pro-inflammatory markers in response to LPS exposure

reproductive system
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
• both sexes show normal hypothalamic expression of reproduction-related genes (Gnrh1, Kiss1, Esr1, Esr2 and Gpr54) relative to wild-type controls
• surprisingly, females exhibit normal estrous cycle length at 14 weeks of age




Genotype
MGI:7664404
ht2
Allelic
Composition
Smim20em1(IMPC)J/Smim20+
Genetic
Background
C57BL/6NJ-Smim20em1(IMPC)J/Mmjax
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smim20em1(IMPC)J mutation (2 available); any Smim20 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• HFD-fed male heterozygotes show significantly increased hypothalamic mRNA expression of Apoa4 (a satiety hormone) but significantly reduced mRNA expression of Crhr1 and Slc22a1 (also known as Oct1) relative to HFD-fed wild-type males
• HFD-fed female heterozygotes display more differences in hypothalamic gene expression than HFD-fed male heterozygotes
• after 18 weeks on a high-fat diet (HFD), male heterozygotes gain significantly less weight than HFD-fed wild-type or homozygous Smim20em1(IMPC)J males
• in contrast, HFD-fed female heterozygotes show normal weight gain relative to HFD-fed homozygous Smim20em1(IMPC)J females
• in an insulin tolerance test (ITT), HFD-fed male heterozygotes show significantly lower glucose levels than HFD-fed wild-type or homozygous Smim20em1(IMPC)J males at specific points post-injection; however, the area under the curve (AUC) is not significantly altered, indicating only a slight increase in insulin sensitivity

growth/size/body
• after 18 weeks on a high-fat diet (HFD), male heterozygotes gain significantly less weight than HFD-fed wild-type or homozygous Smim20em1(IMPC)J males
• in contrast, HFD-fed female heterozygotes show normal weight gain relative to HFD-fed homozygous Smim20em1(IMPC)J females

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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory