Mouse Genome Informatics
hm1
    Utrntm1Ked/Utrntm1Ked
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• decrease in junctional folding at the postsynaptic membrane
• reduction in number of acetylcholine receptors in each junction
• the amplitude of miniature endplate currents is reduced by 20% in the extensor digitorum longus muscle, however other features of neuromuscular transmission are normal

muscle
N
• no indication of muscle weakness or degeneration of cardiac or skeletal muscle

renal/urinary system
N
• normal kidney and function

respiratory system
N
• no signs of abnormal breathing and the lung appears normal


Mouse Genome Informatics
cx2
    Dmdmdx-3Cv/Dmdmdx-3Cv
Utrntm1Ked/Utrntm1Ked

involves: 129 * C3H/HeHa * C57BL * M. m. castaneus * M. m musculus
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• authors state that mice develop the same skeletal muscle abnormalities as observed in Dmdmdx Utrntm1Ked mice

nervous system
N
• unlike in Dmdmdx Utrntm1Ked mice, brain morphology is normal

respiratory system
N
• unlike in Dmdmdx Utrntm1Ked mice, lung morphology is normal

liver/biliary system
N
• liver morphology is normal

renal/urinary system
N
• kidney morphology is normal

reproductive system
N
• ovary morphology is normal


Mouse Genome Informatics
cx3
    Dmdmdx-3Cv/Y
Utrntm1Ked/Utrntm1Ked

involves: 129 * C3H/HeHa * C57BL * M. m. castaneus * M. m musculus
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• authors state that mice develop the same skeletal muscle abnormalities as observed in Dmdmdx Utrntm1Ked mice

nervous system
N
• unlike in Dmdmdx Utrntm1Ked mice, brain morphology is normal

respiratory system
N
• unlike in Dmdmdx Utrntm1Ked mice, lung morphology is normal

liver/biliary system
N
• liver morphology is normal

renal/urinary system
N
• kidney morphology is normal

reproductive system
N
• testis morphology is normal


Mouse Genome Informatics
cx4
    Dmdmdx/Dmdmdx
Utrntm1Ked/Utrntm1Ked

involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all succumb to premature death by 20 weeks of age

behavior/neurological
• slack posture by 4 to 6 weeks of age
• decrease in mobility and abnormal field behavior by 4 to 6 weeks of age
• waddling gait

growth/size/body

muscle
• muscle fibers are irregularly shaped and sized, many with centralized nuclei and some lymphocyte infiltration
• some fibers contain fat or appear to be replaced by adipose cells
• muscular dystrophy begins at 6 days of age and becomes severe by 10 weeks of age, earlier than in single Dmd mutants

respiratory system
• exhibit abnormal breathing by 4 to 6 weeks of age

skeleton

nervous system
• postsynaptic endplate regions exhibit a virtual absence of junctional folding at the postsynaptic membrane
• about 40% decrease in acetylcholine receptors at the synapse

limbs/digits/tail
• abnormally postured hindlimbs with joint contractures

Mouse Models of Human Disease
OMIM IDRef(s)
Muscular Dystrophy, Duchenne Type; DMD 310200 J:42388