Phenotypes associated with this allele

• Allele Symbol: Sptbn1^{tm1c(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:5635107
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Sptbn1^tm1c(EUCOMM)Wtsi/Sptbn1^tm1c(EUCOMM)Wtsi	involves: C57BL/6J * C57BL/6N	MGI:5692190

Genotype
MGI:5692190

cn1

• Allelic Composition: Sptbn1^{tm1c(EUCOMM)Wtsi}/Sptbn1^{tm1c(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: EPD0065_1_F10

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal fetal cardiomyocyte morphology ( J:219548 )

• in culture, adenovirus-cre-infected ventricular cardiomyocytes show reduced expression of cardiomyocyte differentiation markers (Nkx2.5, dystrophin, and alpha-smooth muscle actin) and disorganized cytoskeletal networks relative to control cardiomyocytes

• dystrophin is barely detectable, unlike in control cardiomyocytes where dystrophin is present in the membrane and cytosol with a stripe-like pattern

• no striated pattern of F-actin fibers and alpha-SMA distribution is observed and tropomyosin localization appears scattered

abnormal fetal cardiomyocyte physiology ( J:219548 )

• in culture, adenovirus-cre-infected ventricular cardiomyocytes show a significantly decreased spontaneous beating rate (only 44% of control cardiomyocytes), indicating impaired cardiac muscle contractile function

increased fetal cardiomyocyte apoptosis ( J:219548 )

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show induction of cleaved caspase-7/Bax proteins and a 11-fold increase in TUNEL-positive rates relative to controls

decreased fetal cardiomyocyte proliferation ( J:219548 )

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show a significant reduction in BrdU incorporation (19% of controls), suggesting decreased DNA synthesis

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show a significant reduction in phosphohistone H3 expression (23% of controls), suggesting decreased mitotic activity

• an MTT-based toxicology assay revealed that cultured adenovirus-cre-infected cardiomyocytes show maximum proliferation on day 2 and significantly decreased proliferation thereafter

muscle

increased fetal cardiomyocyte apoptosis ( J:219548 )

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show induction of cleaved caspase-7/Bax proteins and a 11-fold increase in TUNEL-positive rates relative to controls

decreased fetal cardiomyocyte proliferation ( J:219548 )

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show a significant reduction in BrdU incorporation (19% of controls), suggesting decreased DNA synthesis

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show a significant reduction in phosphohistone H3 expression (23% of controls), suggesting decreased mitotic activity

• an MTT-based toxicology assay revealed that cultured adenovirus-cre-infected cardiomyocytes show maximum proliferation on day 2 and significantly decreased proliferation thereafter

cellular

increased fetal cardiomyocyte apoptosis ( J:219548 )

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show induction of cleaved caspase-7/Bax proteins and a 11-fold increase in TUNEL-positive rates relative to controls

decreased fetal cardiomyocyte proliferation ( J:219548 )

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show a significant reduction in BrdU incorporation (19% of controls), suggesting decreased DNA synthesis

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show a significant reduction in phosphohistone H3 expression (23% of controls), suggesting decreased mitotic activity

• an MTT-based toxicology assay revealed that cultured adenovirus-cre-infected cardiomyocytes show maximum proliferation on day 2 and significantly decreased proliferation thereafter

abnormal cell cycle ( J:219548 )

• at 48 hr after adenoviral-cre infection, cultured ventricular cardiomyocytes isolated from E14.5 embryos show a reduction of cell cycle progression relative to controls

abnormal cell cycle checkpoint function ( J:219548 )

• in culture, adenovirus-cre-infected ventricular cardiomyocytes show decreased expression of CDK inhibitors and increased expression of D-type cyclins, indicating a disruption of the G1/S checkpoint