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Phenotypes Associated with This Genotype
Genotype
MGI:3717194
Allelic
Composition
Mbtps1wrt/Mbtps1wrt
Genetic
Background
C57BL/6J-Mbtps1wrt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbtps1wrt mutation (2 available); any Mbtps1 mutation (72 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• over 90% of mice die within 30 hours of injection with tunicamycin (an endoplasmic reticulum stressor) compared to under 10% for controls

pigmentation
• in adults, the coat is of a homogeneous color and made of hair with a white base and a grey/brown tip (J:123123)
• the mutant mice show progressive hypopigmentation of the fur (grey), with intra- and inter-hair variegation (J:94077)
• homozygous mice exhibit a modest hypopigmentation 8 days post-partum that progresses to premature grayness (J:123123)

reproductive system
• homozygous mutant females are sterile when bred with homozygous males, and crosses with heterozygous males only give birth to heterozygous pups

homeostasis/metabolism
• homozygous mice have elevated levels of LDL
• in homozygotes, the blood cholesterol level is decreased by 75 percent as compared to wild-type values (J:94077)
• homozygous mice have significantly reduced levels of serum cholesterol (J:123123)
• mice have normal levels of triglycerides (J:123123)
• homozygous mice have significantly reduced levels of HDL
• over 90% of mice die within 30 hours of injection with tunicamycin (an endoplasmic reticulum stressor) compared to under 10% for controls

immune system
• mice have an exaggerated colitic response to 2% dextran sulfide sodium (DSS) treatment of drinking water
• starting with 4 days of DSS treatment, mice lose significantly more weight than controls
• by 7 days of DSS treatment, mice have lost almost 20% of their initial weight compared to 10% for controls
• after 9 days of DSS treatment, colons are thickened and shortened with bleeding visible
• histological analysis reveals dramatic leukocyte recruitment and crypt loss after 7 days of DSS treatment
• colon explants from DSS treated mice produce more IL-1beta
• bone marrow chimera experiments indicate non-hematopoietic cells expressing the mutant allele increases susceptibility to induced colitis
• tunicamycin injection causes a colitis-like disease in mutant mice but not in control mice
• in homozygotes, the killing function of cytotoxic T cells (CTL) is impaired
• colon explants from dextran sulfide sodium (DSS) treated mice produce more IL-1beta
• colon explants produce more IL-6 than controls
• homozygotes are resistant to Listeria infections
• mice are sensitive to mouse cytomegalovirus (MCMV) infections (J:94077)
• homozygotes are susceptible to MCMV infections (J:123123)
• mice present reduced levels of gamma interferon but elevated levels of interleukine 6, 12 and type 1 interferon 36 hours post infection (J:123123)

cellular
• expression of ATF6-dependent unfolded protein response genes is reduced in homozygous mutants upon activation of the endoplasmic reticulum stress

digestive/alimentary system
• mice have an exaggerated colitic response to 2% dextran sulfide sodium (DSS) treatment of drinking water
• starting with 4 days of DSS treatment, mice lose significantly more weight than controls
• by 7 days of DSS treatment, mice have lost almost 20% of their initial weight compared to 10% for controls
• after 9 days of DSS treatment, colons are thickened and shortened with bleeding visible
• histological analysis reveals dramatic leukocyte recruitment and crypt loss after 7 days of DSS treatment
• colon explants from DSS treated mice produce more IL-1beta
• bone marrow chimera experiments indicate non-hematopoietic cells expressing the mutant allele increases susceptibility to induced colitis
• tunicamycin injection causes a colitis-like disease in mutant mice but not in control mice

integument
• in adults, the coat is of a homogeneous color and made of hair with a white base and a grey/brown tip (J:123123)

hematopoietic system
• in homozygotes, the killing function of cytotoxic T cells (CTL) is impaired


Contributing Projects:
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
04/16/2024
MGI 6.23
The Jackson Laboratory