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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dtnatm1Jrs
targeted mutation 1, Joshua R Sanes
MGI:2148537
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dtnatm1Jrs/Dtnatm1Jrs involves: 129X1/SvJ * C57BL/6 MGI:2176869
cx2
Dtnatm1Jrs/Dtnatm1Jrs
Utrntm1Jrs/Utrntm1Jrs
involves: 129S1/Sv * 129X1/SvJ MGI:2176888
cx3
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
Utrntm1Jrs/Utrntm1Jrs
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn MGI:2176891
cx4
Dtnatm1Jrs/Dtnatm1Jrs
DtnbGt(OST109050)Lex/DtnbGt(OST109050)Lex
involves: 129S5/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:3621490
cx5
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
involves: 129X1/SvJ * C57BL/10ScSn MGI:2176892


Genotype
MGI:2176869
hm1
Allelic
Composition
Dtnatm1Jrs/Dtnatm1Jrs
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnatm1Jrs mutation (1 available); any Dtna mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• degeneration of myocytes
• 61% exhibit mild cardiomyopathy at 1 month, including mononuclear-cell infiltration and fibrosis, associated with plaques that are scattered through both ventricles, however hearts are not dilated or hypertrophic
• develop mild skeletal dystrophy by 1 month of age; see small groups of degenerating myofibers and infiltrating monocytes (J:59675)
• the diaphragm is the most severely affected skeletal muscle (J:59675)
• muscle fibers are less structurally compromised than in Dmdmdx mice and appear to maintain the dystrophin-containing glycoprotein complex (J:59675)
• about 40% of fibers are dystrophic (J:60776)

cardiovascular system
• degeneration of myocytes
• 61% exhibit mild cardiomyopathy at 1 month, including mononuclear-cell infiltration and fibrosis, associated with plaques that are scattered through both ventricles, however hearts are not dilated or hypertrophic

nervous system
• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution, however movement is normal
• derangement of the postsynaptic membrane, with a 50% reduction in the density of junctional folds and altered distribution of electron-dense material
• postsynaptic apparatus is fragmented into discrete boutons

behavior/neurological
• single knockout mutants perform more poorly than controls but better than double knockouts with DtnbGt(OST109050)Lex
• single knockout mutants perform more poorly than controls but better than double knockouts with DtnbGt(OST109050)Lex




Genotype
MGI:2176888
cx2
Allelic
Composition
Dtnatm1Jrs/Dtnatm1Jrs
Utrntm1Jrs/Utrntm1Jrs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnatm1Jrs mutation (1 available); any Dtna mutation (8 available)
Utrntm1Jrs mutation (2 available); any Utrn mutation (135 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mild cardiomypathy
• exhibit a mild skeletal dystrophy that is similar to that of single homozygous Dtna mice

cardiovascular system
• mild cardiomypathy

nervous system
• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution
• subset of synapses (20-30%) are more severely disrupted than in single Dtna mutants, with the normal branching morphology of acetylcholine receptors replaced with coarse striations radiating in a zebra stripe-like pattern
• almost complete lack of junctional folds in the postsynaptic membrane
• cultured myotubes show defects in acetylcholine clustering




Genotype
MGI:2176891
cx3
Allelic
Composition
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
Utrntm1Jrs/Utrntm1Jrs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (32 available); any Dmd mutation (153 available)
Dtnatm1Jrs mutation (1 available); any Dtna mutation (8 available)
Utrntm1Jrs mutation (2 available); any Utrn mutation (135 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

mortality/aging
• lifespan is 3-11 weeks
• 3 of 11 die before weaning

growth/size/body
• exhibit poor growth

muscle
• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrntm1Jrs and Dmdmdx mice
• develop severe skeletal dystrophy, however muscles are no more dystrophic than muscles of double Utrntm1Jrs and Dmdmdx mutant mice

cardiovascular system
• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrntm1Jrs and Dmdmdx mice

skeleton

limbs/digits/tail
• severe limb contractures

nervous system
• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:59675




Genotype
MGI:3621490
cx4
Allelic
Composition
Dtnatm1Jrs/Dtnatm1Jrs
DtnbGt(OST109050)Lex/DtnbGt(OST109050)Lex
Genetic
Background
involves: 129S5/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnatm1Jrs mutation (1 available); any Dtna mutation (8 available)
DtnbGt(OST109050)Lex mutation (0 available); any Dtnb mutation (70 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants have significantly decreased performance in ability to balance on a small platform, to hang from an inverted screen, or to balance on a rotating rod at constant or accelerating speeds
• double mutants have significantly poorer performance in a forelimb grip strength test

nervous system
• in double knockouts, inhibitory synapse formation in the cerebellum is defective




Genotype
MGI:2176892
cx5
Allelic
Composition
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
Genetic
Background
involves: 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (32 available); any Dmd mutation (153 available)
Dtnatm1Jrs mutation (1 available); any Dtna mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span is 8-10 months

muscle
• develop moderate to severe cardiomyopathy
• exhibit a more severe dystrophy than single Dmdmdx mutant mice, but not as severe as that of double mutant Utrntm1Jrs and Dmd mdx mice or triple mutant Utrntm1Jrs, Dtnatm1Jrs, and Dmdmdx mice

cardiovascular system
• develop moderate to severe cardiomyopathy

nervous system
• at 2-4 months of age, synapses are broken into discrete boutons and acetylcholine receptors are patchily distributed within the boutons

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:59675





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last database update
03/30/2021
MGI 6.16
The Jackson Laboratory