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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smarca4tm1.1Pcn
targeted mutation 1.1, Pierre Chambon
MGI:5009421
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Smarca4tm1.1Pcn/Smarca4+ involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:5009693
cn2
Smarca2tm1Mya/Smarca2tm1Mya
Smarca4tm1.2Pcn/Smarca4tm1.1Pcn
Tg(Myh11-cre,-EGFP)2Mik/0
involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:5009697
cn3
Smarca2tm1Mya/Smarca2+
Smarca4tm1.2Pcn/Smarca4tm1.1Pcn
Tg(Myh11-cre,-EGFP)2Mik/0
involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:5009696
cn4
Smarca4tm1.2Pcn/Smarca4tm1.1Pcn
Tg(Myh11-cre,-EGFP)2Mik/0
involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:5009694
cx5
Smarca2tm1Mya/Smarca2tm1Mya
Smarca4tm1.1Pcn/Smarca4+
involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:5009695


Genotype
MGI:5009693
ht1
Allelic
Composition
Smarca4tm1.1Pcn/Smarca4+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarca4tm1.1Pcn mutation (0 available); any Smarca4 mutation (109 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• in 2 of 19 mice
• in 2 of 19 mice

homeostasis/metabolism
• in 2 of 19 mice

cellular
• in 2 of 19 mice




Genotype
MGI:5009697
cn2
Allelic
Composition
Smarca2tm1Mya/Smarca2tm1Mya
Smarca4tm1.2Pcn/Smarca4tm1.1Pcn
Tg(Myh11-cre,-EGFP)2Mik/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarca2tm1Mya mutation (0 available); any Smarca2 mutation (90 available)
Smarca4tm1.1Pcn mutation (0 available); any Smarca4 mutation (109 available)
Smarca4tm1.2Pcn mutation (1 available); any Smarca4 mutation (109 available)
Tg(Myh11-cre,-EGFP)2Mik mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at P10
• no mice survives beyond 2 weeks

digestive/alimentary system
• by 7 to 10 days, all mice develop enlarged gastrointestinal tract unlike control mice
• mice exhibit dilated intestines filled with air and fecal matter unlike control mice
• at E17.5, mice exhibit shorter small intestine compared with control mice
• at E17.5, mice exhibit shorter small intestine compared with control mice

muscle
• at E17.5, mice exhibit shorter small intestine compared with control mice
• in neonates, smooth muscle cell apoptosis in the proximal and distal colon is increased compared to in control mice
• however, proliferation of intestinal smooth muscle cell is equivalent to in wild-type mice
• cannulated colonic segments fail to exhibit spontaneous contractile activity compared with control tissue

renal/urinary system
• by 7 to 10 days, all mice exhibit enlarged urinary bladder unlike control mice




Genotype
MGI:5009696
cn3
Allelic
Composition
Smarca2tm1Mya/Smarca2+
Smarca4tm1.2Pcn/Smarca4tm1.1Pcn
Tg(Myh11-cre,-EGFP)2Mik/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarca2tm1Mya mutation (0 available); any Smarca2 mutation (90 available)
Smarca4tm1.1Pcn mutation (0 available); any Smarca4 mutation (109 available)
Smarca4tm1.2Pcn mutation (1 available); any Smarca4 mutation (109 available)
Tg(Myh11-cre,-EGFP)2Mik mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• by 4 weeks of age
• the colon is shorter than in wild-type mice
• by 4 weeks of age
• enlarged by 4 weeks of age
• mice exhibit short smaller intestine




Genotype
MGI:5009694
cn4
Allelic
Composition
Smarca4tm1.2Pcn/Smarca4tm1.1Pcn
Tg(Myh11-cre,-EGFP)2Mik/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarca4tm1.1Pcn mutation (0 available); any Smarca4 mutation (109 available)
Smarca4tm1.2Pcn mutation (1 available); any Smarca4 mutation (109 available)
Tg(Myh11-cre,-EGFP)2Mik mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at P10 due to cardiopulmonary defects

digestive/alimentary system
• smooth muscle cells are disorganized in the colon compared to in wild-type mice
• in neonates, the colon is shorter than in wild-type mice
• mice exhibit enlarged ileum and jejunum compared with wild-type mice
• mice exhibit enlarged ileum compared with wild-type mice
• mice exhibit enlarged jejunum compared with wild-type mice
• in neonates, the small intestines are shorter than in wild-type mice

muscle
• smooth muscle cells are disorganized in the colon compared to in wild-type mice
• in neonates, smooth muscle cell apoptosis in the proximal and distal colon is increased compared to in wild-type mice
• in response to KCl or carbachol, colonic rings exhibit impaired contractility compared with wild-type tissue

cardiovascular system
• in cyanotic mice
• in cyanotic mice
• in 6 of 18 mice at P0 to P2
• lungs are hyperemic with accumulation of eosinophilic lipoproteinaceous material in the alveolar air space compared to in wild-type mice

respiratory system
• lungs are hyperemic with accumulation of eosinophilic lipoproteinaceous material in the alveolar air space compared to in wild-type mice
• in cyanotic mice

homeostasis/metabolism
• in 6 of 18 mice at P0 to P2

cellular
• in cyanotic mice




Genotype
MGI:5009695
cx5
Allelic
Composition
Smarca2tm1Mya/Smarca2tm1Mya
Smarca4tm1.1Pcn/Smarca4+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarca2tm1Mya mutation (0 available); any Smarca2 mutation (90 available)
Smarca4tm1.1Pcn mutation (0 available); any Smarca4 mutation (109 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
N
• mice exhibit normal intestines and colonic ring contractility

muscle
• however, colonic ring contractility is normal
• in neonates, intestinal smooth muscle cell proliferation is increased compared to in wild-type mice





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory