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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smtntm1Gve
targeted mutation 1, Guillaume van Eys
MGI:3613292
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Smtntm1Gve/Smtntm1Gve involves: 129/Sv * C57BL/6 MGI:3614254


Genotype
MGI:3614254
hm1
Allelic
Composition
Smtntm1Gve/Smtntm1Gve
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smtntm1Gve mutation (0 available); any Smtn mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 50% die before 3 weeks of age

growth/size/body
• reach only about 80% of normal body weight

digestive/alimentary system
• intestinal wall is stiff and fragile
• coss-sectional area of both longitudinal and circular muscle layers is about 4-fold greater
• intestinal villi are irregular and atrophic
• intestinal smooth muscle cell hypertrophy
• nuclei and cytoplasm of the intestinal smooth muscle cells are larger and the distribution of mitochondria and dense bodies is less organized and micropinocytic vesicles are absent
• proximal duodenum is greatly dilated due slower food transport
• mass of jejunal smooth muscle is increased
• numerous diverticula are seen in all parts of the intestine, predominately on the mesenteric side, except for the cecum
• diverticula are present in about 50% of mice 24 hours after birth and increase in number and size as mice age
• slow waves in smooth muscle cells are irregular and variable, the amplitude of the slow waves is smaller and the frequency of slow waves is diminished
• whole-gut transit time is about twice as long as wild-type
• inflammation of the diverticula and the mesentery is common

muscle
• reduction of maximal responses to phenylephrine are also seen in thoracic aortas
• the maximal contractions produced by the femoral arteries are greatly reduced in response to K+ , the thromboxane A2 mimetic U46619, or the alpha1 1 adrenergic agonist, phenylephrine
• slow waves in smooth muscle cells are irregular and variable, the amplitude of the slow waves is smaller and the frequency of slow waves is diminished
• decrease in contractile potential of intestinal smooth muscle cells, with jejunal smooth muscle strips showing at least a 4 times lower contractile force per unit muscle mass as controls
• amplitude and frequency of spontaneous spikes is significantly lower in isolated jejunal smooth muscle strips
• receptor-independent contractions to carbachol, prostaglandin F2alpha, substance P, and serotonin are significantly lower

immune system
• inflammation of the diverticula and the mesentery is common
• intestinal perforations leading to sepsis and death are seen

adipose tissue
• absence of subcutaneous fat
• absence of visceral and subcutaneous fat

reproductive system
• those that survive to adulthood are infertile

cardiovascular system
• increased heart weight to body weight ratio at 6 weeks
• reduction of maximal responses to phenylephrine are also seen in thoracic aortas
• the maximal contractions produced by the femoral arteries are greatly reduced in response to K+ , the thromboxane A2 mimetic U46619, or the alpha1 1 adrenergic agonist, phenylephrine

integument
• absence of subcutaneous fat





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
06/12/2024
MGI 6.13
The Jackson Laboratory