Phenotypes associated with this allele

• Allele Symbol: Col6a1^em1Sal
• Allele Name: endonuclease-mediated mutation 1, Universidad de Salamanca
• Allele ID: MGI:8316722
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col6a1^em1Sal/Col6a1^em1Sal	C57BL/6J-Col6a1^em1Sal	MGI:8316732

Genotype
MGI:8316732

hm1

• Allelic Composition: Col6a1^em1Sal/Col6a1^em1Sal
• Genetic Background: C57BL/6J-Col6a1^em1Sal

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

behavior/neurological

decreased grip strength ( J:379456 )

• in forelimbs at ages 6 and 12 months

growth/size/body

growth/size/body region phenotype ( J:379456 , J:379456 )

N • normal organ (liver, kidney, brain, lung, intestine, spleen) weight at ages 6 and 12 months (J:379456)

♀N • normal growth curve between ages 1 and 12 months (J:379456)

abnormal postnatal growth/weight/body size ( J:379456 )

♂ • different growth curve between ages 1 and 12 months: slower first phase (up to age 2.2 months), faster second phase, reaching normal weight by age 12 months

muscle

abnormal muscle morphology ( J:379456 )

• fibrosis in skeletal and diaphragm muscles at ages 2, 6 and 12 months

abnormal skeletal muscle fiber morphology ( J:379456 )

• rounded muscle fibers at ages 2, 6 and 12 months

increased variability of skeletal muscle fiber size ( J:379456 )

• at ages 2, 6 and 12 months

centrally nucleated skeletal muscle fibers ( J:379456 )

• at ages 2, 6 and 12 months

decreased muscle weight ( J:379456 )

• up to age 12 months

abnormal diaphragm morphology ( J:379456 )

• centrally nucleated muscle fibers, increased variability of fiber size and rounded fibers at ages 2, 6 and 12 months

skeletal muscle fibrosis ( J:379456 )

• at ages 2, 6 and 12 months

respiratory system

decreased tidal volume ( J:379456 )

• at age 12 months

decreased total lung capacity ( J:379456 )

• at age 12 months

hypopnea ( J:379456 )

• at age 12 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ullrich congenital muscular dystrophy 1A		DOID:0060946	OMIM:254090	J:379456