All Phenotypes Des<tm1Cba> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Des^tm1Cba/Des^tm1Cba	involves: 129S2/SvPas	MGI:3615354
hm2	Des^tm1Cba/Des^tm1Cba	involves: 129S2/SvPas * C57BL/6J	MGI:5912041
cx3	Des^tm1Cba/Des^tm1Cba Synm^tm1.1Ics/Synm^tm1.1Ics	involves: 129S2/SvPas	MGI:6476688

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

cardiovascular system

abnormal aorta elastic fiber morphology ( J:32928 )

• at 42 days, the space between each elastin fiber is significantly reduced in mutant aortae

abnormal vascular smooth muscle morphology ( J:32928 )

• at 42 days, the space occupied by smooth muscle cells in the vessel wall is significantly reduced

abnormal myocardium layer morphology ( J:32928 )

• adult homozygotes exhibit calcification and degeneration of the cardiac muscle

abnormal myocardial fiber morphology ( J:32928 )

• at 42 days, myocardial fibers appear to be fragile and prone to breakage upon mechanical stress

myocardium necrosis ( J:32928 )

• at 42 days, homozygotes exhibit necrosis on the surface of the heart

cardiac fibrosis ( J:32928 )

• at 42 days, homozygotes display fibrosis at the surface of the right ventricle and in the septum

dystrophic cardiac calcinosis ( J:32928 )

• at ~30 days, mutant hearts display white spots corresponding to calcification, as confirmed by Kossa's method

hemorrhage ( J:32928 )

• at 42 days, homozygotes exhibit hemorrhaging on the surface of the heart

muscle

abnormal vascular smooth muscle morphology ( J:32928 )

• at 42 days, the space occupied by smooth muscle cells in the vessel wall is significantly reduced

abnormal myocardium layer morphology ( J:32928 )

• adult homozygotes exhibit calcification and degeneration of the cardiac muscle

abnormal myocardial fiber morphology ( J:32928 )

• at 42 days, myocardial fibers appear to be fragile and prone to breakage upon mechanical stress

myocardium necrosis ( J:32928 )

• at 42 days, homozygotes exhibit necrosis on the surface of the heart

abnormal skeletal muscle fiber morphology ( J:137067 )

• mitochondria lose association with Z-discs

• mitochondria found in focal aggregates in sarcoplasm and subsarcolemmal regions

skeletal muscle fiber necrosis ( J:137067 )

• numerous necrotic fibers in the soleus at 1 year

skeletal muscle fiber atrophy ( J:137067 )

• atrophic fibers seen at 1 year

increased skeletal muscle fiber size ( J:137067 )

• hypertrophic fibers seen at 1 year

centrally nucleated skeletal muscle fibers ( J:137067 )

• centrally nucleated fibers in the soleus at 1 year

decreased skeletal muscle fiber number ( J:137067 )

• marked reduction in total number of fibers

abnormal diaphragm morphology ( J:32928 )

• at 42 days, mutant diaphragms exhibit abnormal sarcomeres with no clear demarcation of I and A bands and disintegrated fibers with sparse filaments

• individual muscle fibers are commonly misaligned and disoriented

• in contrast, other muscles (e.g. limb muscles) exhibit normal sarcomere alignment up to 12 months of age

thin diaphragm muscle ( J:32928 )

• homozygotes display a thinner, transparent diaphragm relative to wild-type mice

cellular

myocardium necrosis ( J:32928 )

• at 42 days, homozygotes exhibit necrosis on the surface of the heart

skeletal muscle fiber necrosis ( J:137067 )

• numerous necrotic fibers in the soleus at 1 year

Allelic Composition	Des^tm1Cba/Des^tm1Cba
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Des^tm1Cba mutation (1 available); any Des mutation (34 available)

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

cardiovascular system

enlarged heart ( J:130557 )

increased heart weight ( J:130557 )

increased heart left ventricle weight ( J:130557 )

increased heart left ventricle wall thickness ( J:130557 )

• left ventricle wall thickness at optimal volume is increased

cardiac fibrosis ( J:130557 )

• deposits of collagen in the right ventricle, left ventricle, and interventricular septum indicating cardiac fibrosis

• larger deposits of collagen are seen in calcified regions

dystrophic cardiac calcinosis ( J:130557 )

• heart exhibits calcifications in the cardiac wall in most mice

decreased cardiac muscle contractility ( J:130557 )

• developed pressure, rate of pressure increase, and developed wall stress are reduced, suggesting that active force generation of the contractile apparatus is reduced

decreased left ventricle developed pressure ( J:130557 )

• heart exhibits lower developed pressure

• lower developed pressure is associated with a lower rate of pressure change (dP/dt) during the rising and falling phases of contraction

increased left ventricle diastolic pressure ( J:130557 )

• heart exhibits increased diastolic pressures at all filling volumes

abnormal myocardial fiber physiology ( J:130557 )

• active stress generated at maximal calcium concentration is lower in isolated skinned trabecular muscle

• the active force during the contraction of maximal calcium concentration at the end of the determination of calcium-sensitivity is slightly lower in isolated skinned trabecular muscle

• however, the calcium-sensitivity of force is unchanged

cardiomyopathy ( J:130557 )

growth/size/body

enlarged heart ( J:130557 )

increased heart weight ( J:130557 )

muscle

decreased cardiac muscle contractility ( J:130557 )

• developed pressure, rate of pressure increase, and developed wall stress are reduced, suggesting that active force generation of the contractile apparatus is reduced

cardiomyopathy ( J:130557 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiomyopathy		DOID:0050700		J:130557

Allelic Composition	Des^tm1Cba/Des^tm1Cba Synm^tm1.1Ics/Synm^tm1.1Ics
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Des^tm1Cba mutation (1 available); any Des mutation (34 available)
Synm^tm1.1Ics mutation (0 available); any Synm mutation (58 available)

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

muscle

muscle phenotype ( J:268425 )

N	• in toto X-gal staining revealed that double mutant embryos show no differences in the pattern of desmin-LacZ expression in skeletal and cardiac muscle relative to control embryos, indicating normal muscle and cardiac formation (E11.5) and patterning (E13.5)

abnormal myoblast differentiation ( J:268425 )

• in neonatal hindlimb muscle cell cultures, the percentage of LacZ-positive myoblasts per myogenic colony is on average 16% higher than that in control cultures, suggesting that primary muscle cells commit to myogenic differentiation earlier than wild-type cells

cellular

abnormal myoblast differentiation ( J:268425 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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