Phenotypes Associated with This Genotype

Genotype
MGI:2175134

• Allelic Composition: Myog^tm1Whk/Myog^tm1Whk
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:14208 )

• die within minutes of birth; however a heart beat is detected at birth

respiratory system

respiratory failure ( J:14208 )

muscle

thin diaphragm muscle ( J:14208 )

• extremely thin

decreased skeletal muscle mass ( J:14208 )

• decreased mass throughout the body, particularly in the tongue and diaphragm

• however, smooth muscle of the aorta and digestive tract appears normal and differentiated cardiomyocytes are present

decreased skeletal muscle fiber density ( J:14208 )

• reduced fiber density, particularly evident in the tongue and diaphragm but also in the trunk and facial areas

muscle hypoplasia ( J:14208 )

• areas normally occupied by myofibers contain mostly mononucleate cells; however, the number of nuclei in muscle-forming regions is similar to wild-type

behavior/neurological

unresponsive to tactile stimuli ( J:14208 )

no spontaneous movement ( J:14208 )

skeleton

abnormal sternebra size ( J:14208 )

• the cranial most sternebrae are wider and the caudal most are narrower than in wild-type mice

short sternum ( J:14208 )

• 55% shorter than in wild-type

abnormal rib morphology ( J:14208 )

• abnormal curvature, and aligned perpendicularly to the vertebral and sternebral bodies

• the second pair of ribs displays delayed or absent connection to the manubrium

short ribs ( J:14208 )

• 15% shorter than in wild-type mice

kyphosis ( J:14208 )

abnormal sternum ossification ( J:14208 )

• excessively ossified with reduced or absent intersternebral cartilage

fragile skeleton ( J:14208 )

adipose tissue

increased brown adipose tissue amount ( J:14208 )

• especially in the dorsal cervical region resulting in visible thickening of the dorsal neck area

homeostasis/metabolism

cyanosis ( J:14208 )