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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sptbn1tm1a(EUCOMM)Wtsi
targeted mutation 1a, Wellcome Trust Sanger Institute
MGI:4432393
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sptbn1tm1a(EUCOMM)Wtsi/Sptbn1tm1a(EUCOMM)Wtsi involves: C57BL/6N MGI:5544030
ht2
Sptbn1tm1a(EUCOMM)Wtsi/Sptbn1+ B6JTyr;B6N-Sptbn1tm1a(EUCOMM)Wtsi/Wtsi MGI:5781763


Genotype
MGI:5544030
hm1
Allelic
Composition
Sptbn1tm1a(EUCOMM)Wtsi/Sptbn1tm1a(EUCOMM)Wtsi
Genetic
Background
involves: C57BL/6N
Cell Lines EPD0065_1_F10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn1tm1a(EUCOMM)Wtsi mutation (2 available); any Sptbn1 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mutant hearts fail to thicken the ventricular wall after E14.5
• abnormalities in cardiomyocyte differentiation and cytoskeletal formation are likely to result from defects in TGF-beta/Smad signaling
• at E11.5, 3 of 11 mutant hearts exhibit thickened myocardial fibers
• at E16.5, the distribution of dystrophin is disrupted and myofibril formation is absent from mutant hearts
• at E15.5, no blood vessels are evident and mutant hearts are paler than wild-type hearts
• at E14.5, 6 of 19 mutant hearts exhibit a ventricular septal defect
• at E15.5, mutant hearts are smaller than wild-type
• however, no difference in heart size or appearance is observed through E12.5
• at E14.5, the density of cells in the trabecular layer of mutant hearts is lower than that in wild-type hearts
• at E14.5, the thicknesses of the compact layer of the left ventricle (LV) is significantly reduced, relative to that in wild-type embryos
• in contrast, the thickness of the LV trabecular layer is not significantly altered
• the ventricle wall of mutant hearts fails to thicken after E14.5, unlike in wild-type hearts
• in 5 of 8 mice at E14.5
• at E16.5, quantification of TUNEL-positive cells revealed that mutant ventricular cardiomyocytess show a 16-fold increase in apoptotic signal relative to controls
• at E16.5, the proliferation of mutant ventricular cardiomyocytes is significantly reduced, as shown by phospho-histone H3 expression analysis and Ki-67 staining

homeostasis/metabolism
• in 5 of 8 mice at E14.5

muscle
• at E14.5, the density of cells in the trabecular layer of mutant hearts is lower than that in wild-type hearts
• at E14.5, the thicknesses of the compact layer of the left ventricle (LV) is significantly reduced, relative to that in wild-type embryos
• in contrast, the thickness of the LV trabecular layer is not significantly altered
• at E16.5, the proliferation of mutant ventricular cardiomyocytes is significantly reduced, as shown by phospho-histone H3 expression analysis and Ki-67 staining

cellular
• at E16.5, quantification of TUNEL-positive cells revealed that mutant ventricular cardiomyocytess show a 16-fold increase in apoptotic signal relative to controls
• at E16.5, the proliferation of mutant ventricular cardiomyocytes is significantly reduced, as shown by phospho-histone H3 expression analysis and Ki-67 staining
• quantification of phospho-histone H3-positive cells revealed that the G2/M transiting signal is only 5% that of controls




Genotype
MGI:5781763
ht2
Allelic
Composition
Sptbn1tm1a(EUCOMM)Wtsi/Sptbn1+
Genetic
Background
B6JTyr;B6N-Sptbn1tm1a(EUCOMM)Wtsi/Wtsi
Cell Lines EPD0065_1_F10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn1tm1a(EUCOMM)Wtsi mutation (2 available); any Sptbn1 mutation (33 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype




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
03/24/2020
MGI 6.15
The Jackson Laboratory