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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Smad1tm2Sor
targeted mutation 2, Philippe Soriano
MGI:3045219
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Smad1tm2Sor/Smad1tm2Sor 129S4/SvJaeSor-Smad1tm2Sor MGI:3045625
hm2
 		Smad1tm2Sor/Smad1tm2Sor involves: 129S4/SvJaeSor * C57BL/6 MGI:3045624
ht3
 		Smad1tm1Sor/Smad1tm2Sor involves: 129S4/SvJaeSor * C57BL/6 MGI:3045626
cn4
 		Meox2tm1(cre)Sor/Meox2+
Smad1tm2Rob/Smad1tm2Sor 		involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 MGI:4437795


Genotype
MGI:3045625
hm1
Allelic
Composition		 Smad1tm2Sor/Smad1tm2Sor
Genetic
Background		 129S4/SvJaeSor-Smad1tm2Sor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1tm2Sor mutation (1 available); any Smad1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
digestive/alimentary system
abnormal stomach morphology ( J:90769 )
• phenotype is stated to be identical to that of homozygotes on the mixed 129S4/SvJaeSor and C57BL/6 background, however analysis is presented only on the mixed background

cellular

reproductive system

endocrine/exocrine glands




Genotype
MGI:3045624
hm2
Allelic
Composition		 Smad1tm2Sor/Smad1tm2Sor
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1tm2Sor mutation (1 available); any Smad1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
digestive/alimentary system
abnormal gastric chief cell morphology ( J:90769 )
• the zymogenic cells of the glandular stomach are severely decreased
abnormal gastric parietal cell morphology ( J:90769 )
• increase in parietal cells

reproductive system
absent primordial germ cells ( J:90769 )
• 60% of E7.5 mutants have low counts of primordial germ cells while some E13.5 embryos, both males and females, lack primordial germ cells
abnormal male reproductive system morphology ( J:90769 )
• 2/7 of males have abnormal reproductive tracts
disorganized testis cords ( J:90769 )
• testis cords of affected males are disorganized and depleted of primordial germ cells
small testis ( J:90769 )
• 2/7 of males have small testes
reduced fertility ( J:90769 )
• intercrosses between homozygous mutants are less productive than those between heterozygotes

cellular
abnormal cell morphology ( J:90769 )
• embryonic fibroblasts display stronger intercellular contacts, an accumulation of cortical actin and a decrease in stress fibers compared to wild-type MEFs
absent primordial germ cells ( J:90769 )
• 60% of E7.5 mutants have low counts of primordial germ cells while some E13.5 embryos, both males and females, lack primordial germ cells

endocrine/exocrine glands
abnormal gastric chief cell morphology ( J:90769 )
• the zymogenic cells of the glandular stomach are severely decreased
abnormal gastric parietal cell morphology ( J:90769 )
• increase in parietal cells
disorganized testis cords ( J:90769 )
• testis cords of affected males are disorganized and depleted of primordial germ cells
small testis ( J:90769 )
• 2/7 of males have small testes




Genotype
MGI:3045626
ht3
Allelic
Composition		 Smad1tm1Sor/Smad1tm2Sor
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1tm1Sor mutation (1 available); any Smad1 mutation (32 available)
Smad1tm2Sor mutation (1 available); any Smad1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
decreased primordial germ cell number ( J:90769 )
• fewer than 30% of embryos lacked primordial germ cells (compared with 100% of Smad1tm1Sor homozygotes and ~60% of Smad1tm2Sor homozygotes

cellular
decreased primordial germ cell number ( J:90769 )
• fewer than 30% of embryos lacked primordial germ cells (compared with 100% of Smad1tm1Sor homozygotes and ~60% of Smad1tm2Sor homozygotes




Genotype
MGI:4437795
cn4
Allelic
Composition		 Meox2tm1(cre)Sor/Meox2+
Smad1tm2Rob/Smad1tm2Sor
Genetic
Background		 involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
Smad1tm2Rob mutation (1 available); any Smad1 mutation (32 available)
Smad1tm2Sor mutation (1 available); any Smad1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, incomplete penetrance ( J:90769 )
• 24% of pups die at birth

digestive/alimentary system
abnormal stomach morphology ( J:90769 )
• in severely affected newborns, the stomach is ruptured
abnormal stomach epithelium morphology ( J:90769 )
• the stomach epithelium is very thin
abnormal stomach muscularis externa morphology ( J:90769 )
• the muscular layer of the stomach is almost completely absent
meteorism ( J:90769 )
• bloated stomach with accumulation of air in the abdomen

growth/size/body
meteorism ( J:90769 )
• bloated stomach with accumulation of air in the abdomen

muscle
abnormal stomach muscularis externa morphology ( J:90769 )
• the muscular layer of the stomach is almost completely absent




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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory