Phenotypes associated with this allele

• Allele Symbol: Kbtbd13^em1Coeo
• Allele Name: endonuclease-mediated mutation 1, Coen Ottenheijm
• Allele ID: MGI:6469320
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kbtbd13^em1Coeo/Kbtbd13^em1Coeo	involves: C57BL/6J	MGI:6469361

Genotype
MGI:6469361

hm1

• Allelic Composition: Kbtbd13^em1Coeo/Kbtbd13^em1Coeo
• Genetic Background: involves: C57BL/6J

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

muscle

abnormal soleus morphology ( J:295442 )

• increased extra-cellular matrix volume at age 9 months

• lower percentage of slow-twitch (type 1) muscle fibers at age 9 months

• increased cross-section of slow-twitch (type 1) and fast-twitch (type 2A) muscle fibers at age 9 months

• larger slow-twitch than fast-twitch fiber cross-section at age 9 months

• nemaline bodies in muscle fibers at age 9 months

• normal thin- and thick-filament lengths at age 9 months

increased soleus weight ( J:295442 )

• at age 9 months

abnormal skeletal muscle fiber morphology ( J:295442 )

• increased extra-cellular matrix volume in soleus at age 9 months

• lower percentage of slow-twitch (type 1) muscle fibers in soleus at age 9 months

• increased cross-section of slow-twitch (type 1) and fast-twitch (type 2A) muscle fibers in soleus at age 9 months

• larger slow-twitch than fast-twitch fiber cross-section in soleus at age 9 months

• nemaline bodies in soleus muscle fibers at age 9 months

• normal thin- and thick-filament lengths in soleus at age 9 months

• stiffer thin filaments

thick diaphragm muscle ( J:295442 )

• increased weight at age 9 months

impaired muscle relaxation ( J:295442 )

• slower relaxation kinetics after maximal tetanic stimulation and after single-twitch stimulation

• stiffer thin filaments

growth/size/body

increased body weight ( J:295442 )

• at age 9 months

limbs/digits/tail

abnormal soleus morphology ( J:295442 )

• increased extra-cellular matrix volume at age 9 months

• lower percentage of slow-twitch (type 1) muscle fibers at age 9 months

• increased cross-section of slow-twitch (type 1) and fast-twitch (type 2A) muscle fibers at age 9 months

• larger slow-twitch than fast-twitch fiber cross-section at age 9 months

• nemaline bodies in muscle fibers at age 9 months

• normal thin- and thick-filament lengths at age 9 months

increased soleus weight ( J:295442 )

• at age 9 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 6		DOID:0110935	OMIM:609273	J:295442