Phenotypes Associated with This Genotype

Genotype
MGI:6156408

• Allelic Composition: Klhl41^{tm1a(KOMP)Wtsi}/Klhl41^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6-Klhl41^{tm1a(KOMP)Wtsi}

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

muscle

abnormal diaphragm morphology ( J:255305 )

• ragged muscle fibers

• desmin protein aggregates distributed across myofibers

• disorganized sarcomeric alpha-actinin staining in myofibers

• Z-line streaming in myofibers

• nemaline bodies in myofibers

myopathy ( J:255305 )

• in diaphragm and hindlimb myofibers

• ragged muscle fibers

• desmin protein aggregates distributed across myofibers

• disorganized sarcomeric alpha-actinin staining

• Z-line streaming

• nemaline bodies

• myocardial morphology

limbs/digits/tail

abnormal hindlimb morphology ( J:255305 )

• ragged muscle fibers

• desmin protein aggregates distributed across myofibers

• disorganized sarcomeric alpha-actinin staining in myofibers

• Z-line streaming in myofibers

• nemaline bodies in myofibers

growth/size/body

slow postnatal weight gain ( J:255305 )

• severe runting at P3 and P10: failure to increase body weight

mortality/aging

neonatal lethality, complete penetrance ( J:255305 )

• mice are born at expected Mendelian ratio but fail to thrive and none survive past age P12

• severe runting at P3 and P10

behavior/neurological

behavior/neurological phenotype ( J:255305 )

N • feeding behavior

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy		DOID:3191	OMIM:PS161800	J:255305