All Phenotypes Dtna<tm1Jrs> MGI Mouse

About Help FAQ

Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Dtna^tm1Jrs
targeted mutation 1, Joshua R Sanes
MGI:2148537

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dtna^tm1Jrs/Dtna^tm1Jrs	involves: 129X1/SvJ * C57BL/6	MGI:2176869
cx2	Dtna^tm1Jrs/Dtna^tm1Jrs Utrn^tm1Jrs/Utrn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ	MGI:2176888
cx3	Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs Utrn^tm1Jrs/Utrn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn	MGI:2176891
cx4	Dtna^tm1Jrs/Dtna^tm1Jrs Dtnb^{Gt(OST109050)Lex}/Dtnb^{Gt(OST109050)Lex}	involves: 129S5/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:3621490
cx5	Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs	involves: 129X1/SvJ * C57BL/10ScSn	MGI:2176892

Allelic Composition	Dtna^tm1Jrs/Dtna^tm1Jrs
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtna^tm1Jrs mutation (1 available); any Dtna mutation (8 available)

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

muscle

myocardial fiber degeneration ( J:59675 )

• degeneration of myocytes

cardiomyopathy ( J:59675 )

• 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

dystrophic muscle ( J:59675 , J:60776 )

• 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 Dmd^mdx mice and appear to maintain the dystrophin-containing glycoprotein complex (J:59675)

• about 40% of fibers are dystrophic (J:60776)

cardiovascular system

myocardial fiber degeneration ( J:59675 )

• degeneration of myocytes

cardiac fibrosis ( J:59675 )

cardiomyopathy ( J:59675 )

nervous system

abnormal neuromuscular synapse morphology ( J:60776 )

• 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

impaired coordination ( J:106640 )

• single knockout mutants perform more poorly than controls but better than double knockouts with Dtnb^{Gt(OST109050)Lex}

decreased grip strength ( J:106640 )

• single knockout mutants perform more poorly than controls but better than double knockouts with Dtnb^{Gt(OST109050)Lex}

Allelic Composition	Dtna^tm1Jrs/Dtna^tm1Jrs Utrn^tm1Jrs/Utrn^tm1Jrs
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtna^tm1Jrs mutation (1 available); any Dtna mutation (8 available)
Utrn^tm1Jrs mutation (2 available); any Utrn mutation (135 available)

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

muscle

cardiomyopathy ( J:59675 )

• mild cardiomypathy

dystrophic muscle ( J:59675 )

• exhibit a mild skeletal dystrophy that is similar to that of single homozygous Dtna mice

cardiovascular system

cardiomyopathy ( J:59675 )

• mild cardiomypathy

nervous system

abnormal neuromuscular synapse morphology ( J:60776 )

• 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

Allelic Composition	Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs Utrn^tm1Jrs/Utrn^tm1Jrs
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmd^mdx mutation (32 available); any Dmd mutation (153 available)
Dtna^tm1Jrs mutation (1 available); any Dtna mutation (8 available)
Utrn^tm1Jrs mutation (2 available); any Utrn mutation (135 available)

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

cellular

skeletal muscle necrosis ( J:59675 )

mortality/aging

premature death ( J:59675 )

• lifespan is 3-11 weeks

postnatal lethality, incomplete penetrance ( J:59675 )

• 3 of 11 die before weaning

growth/size/body

postnatal growth retardation ( J:59675 )

• exhibit poor growth

muscle

cardiomyopathy ( J:59675 )

• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrn^tm1Jrs and Dmd^mdx mice

skeletal muscle necrosis ( J:59675 )

dystrophic muscle ( J:59675 )

• develop severe skeletal dystrophy, however muscles are no more dystrophic than muscles of double Utrn^tm1Jrs and Dmd^mdx mutant mice

cardiovascular system

cardiomyopathy ( J:59675 )

• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrn^tm1Jrs and Dmd^mdx mice

skeleton

kyphosis ( J:59675 )

limbs/digits/tail

abnormal limb morphology ( J:59675 )

• severe limb contractures

nervous system

abnormal neuromuscular synapse morphology ( J:60776 )

• 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

Allelic Composition	Dtna^tm1Jrs/Dtna^tm1Jrs Dtnb^{Gt(OST109050)Lex}/Dtnb^{Gt(OST109050)Lex}
Genetic Background	involves: 129S5/SvEvBrd * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtna^tm1Jrs mutation (1 available); any Dtna mutation (8 available)
Dtnb^{Gt(OST109050)Lex} mutation (0 available); any Dtnb mutation (70 available)

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

behavior/neurological

impaired coordination ( J:106640 )

• 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

decreased grip strength ( J:106640 )

• double mutants have significantly poorer performance in a forelimb grip strength test

nervous system

abnormal CNS synapse formation ( J:106640 )

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

Allelic Composition	Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs
Genetic Background	involves: 129X1/SvJ * C57BL/10ScSn

Find Mice

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

mortality/aging

premature death ( J:59675 )

• life span is 8-10 months

muscle

cardiomyopathy ( J:59675 )

• develop moderate to severe cardiomyopathy

dystrophic muscle ( J:59675 )

• exhibit a more severe dystrophy than single Dmd^mdx mutant mice, but not as severe as that of double mutant Utrn^tm1Jrs and Dmd ^mdx mice or triple mutant Utrn^tm1Jrs, Dtna^tm1Jrs, and Dmd^mdx mice

cardiovascular system

cardiomyopathy ( J:59675 )

• develop moderate to severe cardiomyopathy

nervous system

abnormal neuromuscular synapse morphology ( J:60776 )

• 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

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)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 03/30/2021 MGI 6.16