Phenotypes associated with this allele

• Allele Symbol: Myh14^tm1Rsad
• Allele Name: targeted mutation 1, Robert S Adelstein
• Allele ID: MGI:4887985
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myh14^tm1Rsad/Myh14^tm1Rsad	involves: 129S6/SvEvTac * C57BL/6	MGI:4888248
cx2	Myh10^tm2Rsad/Myh10^tm2Rsad Myh14^tm1Rsad/Myh14^tm1Rsad	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6	MGI:4888251
cx3	Myh10^tm4Rsad/Myh10^tm4Rsad Myh14^tm1Rsad/Myh14^tm1Rsad	involves: 129S6/SvEvTac * C57BL/6	MGI:4888249

Genotype
MGI:4888248

hm1

• Allelic Composition: Myh14^tm1Rsad/Myh14^tm1Rsad
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:168304 )

• mice are viable, appear normal in size and do not display any gross physical or behavioral abnormalities

nervous system

nervous system phenotype ( J:168304 )

N • mice exhibit no obvious defects in brain structure

cardiovascular system

cardiovascular system phenotype ( J:168304 )

N • mice exhibit no obvious defects in heart development

respiratory system

respiratory system phenotype ( J:168304 )

N • mice exhibit no obvious defects in lung development

Genotype
MGI:4888251

cx2

• Allelic Composition: Myh10^tm2Rsad/Myh10^tm2Rsad; Myh14^tm1Rsad/Myh14^tm1Rsad
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:168304 )

• embryos die as a result of cardiomyopathy after E14.5

cellular

abnormal microtubule cytoskeleton morphology ( J:168304 )

• cardiomyocytes show an increase in acetylated tubulin staining suggesting an increase in microtubule stability

abnormal centrosome morphology ( J:168304 )

• at E13.5, gamma-tubulin staining showed abnormal formation of multiple centrosomes in mitotic cardiac myocytes

abnormal mitosis ( J:168304 )

• cardiomyocytes exhibit impaired karyokinesis and multiple centrosomes

abnormal mitotic spindle morphology ( J:168304 )

• mitotic cardiomyocytes lack a bipolar spindle at metaphase; instead, spindles are deformed with irregular aggregated chromosomes

cardiovascular system

abnormal fetal cardiomyocyte morphology ( J:168304 )

• at E13.5, 91% of cardiomyocytes exhibit an abnormal shape

• 9% of cardiomyocytes are binucleated

• nuclei are irregular and significantly larger, sometimes exhibiting a multilobed appearance

• mitotic cardiomyocytes lack a bipolar spindle; instead, spindles are deformed with irregular aggregated chromosomes

• however, sarcomere formation is normal in E13.5 cardiac myocytes

decreased fetal cardiomyocyte number ( J:168304 )

• at E13.5, hearts exhibit a marked reduction in cardiomyocytes

heart hypoplasia ( J:168304 )

• embryonic heart is severely hypoplastic; however, numbers of cardiac myocytes are sufficient to support life to E14.5

cardiomyopathy ( J:168304 )

muscle

cardiomyopathy ( J:168304 )

Genotype
MGI:4888249

cx3

• Allelic Composition: Myh10^tm4Rsad/Myh10^tm4Rsad; Myh14^tm1Rsad/Myh14^tm1Rsad
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

cardiovascular system

cardiac hypertrophy ( J:168304 )

abnormal myocardial fiber physiology ( J:168304 )

• mice exhibit cardiomyocyte hypertrophy and death, and interstitial fibrosis

• average area of a cardiac myocyte is 4 times larger than control

• intercalated discs are disrupted in cardiac myocytes as determined by N-cadherin staining

cardiomyopathy ( J:168304 )

muscle

cardiomyopathy ( J:168304 )

growth/size/body

cardiac hypertrophy ( J:168304 )