Analysis Tools|
Allele Symbol Allele Name Allele ID |
Lama2dy-2J dystrophia muscularis 2 Jackson MGI:1856027 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• unlike in wild-type mice, one third of Purkinje cells observed exhibit long term potentitation when evoked excitatory postsynaptic potentials are recorded
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital merosin-deficient muscular dystrophy 1A | DOID:0110636 |
OMIM:607855 |
J:97464 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Lama2dy-2J/Lama2dy-2J mouse
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• unlike in wild-type mice, muscles contain myofibers of different calibers
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• mice retain a higher regenerative capacity than Lama2dy homozygotes but exhibit an increase in centrally located nuclei compared to controls
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• mice exhibit defective radial sorting of nerve roots in the spinal cord
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• mice exhibit amyelinated axons of peripheral nerves and roots
(J:98086)
• peripheral nerve roots in the spine exhibit severe hypomyelination
(J:134367)
• despite adherence of Schwann cells to axons and extension of processes, myelination is not completed
(J:134367)
• mice exhibit a variable defect in myelination compared to Lama2dy-7J homozygotes that exhibit a consistent hypo-myelination phenotype
(J:134367)
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• when suspended by their tail, mice exhibit retraction of hindlimbs towards body
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• mice exhibit locomotive impairments when prodded to walk fast
• however, when not prodded mice move normally
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• the posterior portion of the skull is slightly expanded
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• skull width relative to skull length is increased
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• the posterior portion of the skull is slightly expanded
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• skull width relative to skull length is increased
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• the basal lamina on myelinating Schawann cells contains gaps
• the basal lamina was absent from non- and pre-myelinating Schwann cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• from 2-3 weeks of age, flexed hind legs to the trunk when lifted by the tail
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• develop mild form of muscular dystrophy, though body weight, body size and life span were comparable to wild-type
• had muscle degeneration, muscle fiber necrosis and fibrosis, though to a lesser extent than in Lama2tm1Eeng homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• unlike wild-type mice, mice clasp their hindlimbs and alternatively flex and extend their those and legs when suspended by their tails
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• mild
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• mice drag one hindlimb or the other when walking
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• mild
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• mice exhibit focal dystrophic lesions such as loss of striation, coagulation necrosis, regenerative activity, variation in fiber size, fibrotic replacement of fibers or increases in connective tissue surrounding muscle fibers, and internal rowing of nuclei
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| N |
• unlike Lama2dy homozygotes, mice reproduce
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• sorting and myelination in distal nerves are improved compared to in Lama2dy-2J Lama4tm1Blp homozygotes
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| N |
• tremors and dyskinesia observed in Lama2dy-2J Lama4tm1Blp homozygotes are suppressed
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• promyelinating Schwann cells lack a basal lamina
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Severe neuropathy in Lama2dy-2J/Lama2dy-2J Lama4tm1Ktry/Lama4tm1Ktry mice
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• mice do not survive past 3 weeks of age
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| N |
• radial sorting of nerve roots in the spinal cord is normal
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• the number of Schwann cells is decreased
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• peripheral nerves are translucent instead of opaque white due to myelination
• mice exhibit amyelinated axons in the limbs
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• mice display dyskinesia by P14
• mice exhibit a splayed stance and strong tremors, halting movement, and retraction of all limbs when suspended
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• mice are 50% smaller than wild-type mice
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• pre- and promyelinating Schwann cells lack basal lamina
• however, ensheathment and myelination of axons by Schwann cells is normal
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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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last database update 11/19/2024 MGI 6.24 |
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