Phenotypes Associated with This Genotype

Genotype
MGI:2651647

• Allelic Composition: Ttn^tm1Her/Ttn^tm1Her; Tg(Ckmm-cre)5Khn/0
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:81993 )

• death at about 5 wks of age

behavior/neurological

abnormal posture ( J:81993 )

abnormal gait ( J:81993 )

cardiovascular system

cardiovascular system phenotype ( J:81993 )

N • the heart was reduced in size, but in proportion to reduced overall body size

N • no pathology of the heart was reported

growth/size/body

decreased body size ( J:81993 )

postnatal growth retardation ( J:81993 )

• apparent at 3 wks of age

muscle

abnormal sarcomere morphology ( J:81993 )

• disarrayed sarcomeres, observed in less than 50% of the area of the myocytes

abnormal M line morphology ( J:81993 )

• pale, widened M-lines, devoid of M-line bridges

progressive muscle weakness ( J:81993 )

• resulting in abnormal posture, gait, and blepharoptosis

vision/eye

blepharoptosis ( J:81993 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2J		DOID:0110283	OMIM:608807	J:81993