Phenotypes Associated with This Genotype

Genotype
MGI:6159012

• Allelic Composition: Hspb7^tm1.2Chen/Hspb7^tm1.2Chen; Lmod2^{tm1(KOMP)Vlcg}/Lmod2^{tm1(KOMP)Vlcg}
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6NTac * CBA

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

HSPB7 represses formation of abnormal actin bundles independent of Lmod2

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:256653 )

• all embryos died before E12.5, at the same stage as Hspb7^tm1.2Chen homozygotes

cardiovascular system

abnormal fetal cardiomyocyte morphology ( J:256653 )

• at E10.5, average thin filament length was significantly reduced relative to that observed in cardiomyocytes of single Hspb7^tm1.2Chen homozygotes; however, thin filaments were still significantly longer than those in single Lmod2^{tm1(KOMP)Vlcg} homozygotes

• specifically, average thin filament length was increased by 4% over single Lmod2^{tm1(KOMP)Vlcg} homozygotes, comparable to the 4% increase seen in single Hspb7^tm1.2Chen homozygotes over wild-type controls

muscle

abnormal sarcomere morphology ( J:256653 )

• at E10.5, cardiomyocyte sarcomeres exhibited abnormal actin bundles (AABs) and mislocalization of Tmod1 in the cytoplasm, similar to single Hspb7^tm1.2Chen homozygotes

• at E10.5, average thin filament length was significantly reduced relative to that observed in cardiomyocytes of single Hspb7^tm1.2Chen homozygotes; however, thin filaments were still significantly longer than those in single Lmod2 ^{tm1(KOMP)Vlcg} homozygotes, indicating that sarcomeric phenotypes could not be rescued by loss of Lmod2 and, thus, were not consequent to up-regulation of Lmod2