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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mnat1tm2.1Tpm
targeted mutation 2.1, Tomi P Makela
MGI:3707002
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Egr2tm2(cre)Pch/?
Mnat1tm2Tpm/Mnat1tm2.1Tpm
involves: 129S2/SvPas MGI:3707557


Genotype
MGI:3707557
cn1
Allelic
Composition
Egr2tm2(cre)Pch/?
Mnat1tm2Tpm/Mnat1tm2.1Tpm
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr2tm2(cre)Pch mutation (2 available); any Egr2 mutation (33 available)
Mnat1tm2.1Tpm mutation (0 available); any Mnat1 mutation (26 available)
Mnat1tm2Tpm mutation (0 available); any Mnat1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• at 6 weeks of age, pyknotic germ cells in the seminiferous tubules in testis indicative of spermatogonia and spermatocyte cell death
• at 10 weeks of age, severe wasting and dramatically reduced cellularity was visible macroscopically; entirely devoid of all germ cells and their derivatives
• at 3 weeks of age, the developing germ lineage in the seminiferous tubules was completely indistinguishable from control animals
• at 10 weeks of age, Sertoli cells in the seminiferous tubules and cells of interstitium were normal

behavior/neurological
• exhibit a variety of symptoms of Schwann cell dysfunction including gait abnormalities beginning at 3 month of age
• mutant were viable and healthy and displayed no signs of neuropathy or myelin dysfunction into early adulthood up to 3 month of age

growth/size/body
• beginning at 3 month of age, pronounced in the hind limbs suggestive of neuropathy and subsequent neurogenic muscular atrophy

nervous system
• at 3 months of age, the mutant exhibited a marked increase in Schwann lineage proliferation
• beginning at 3 month of age, large diameter axons completely denuded of myelin are present in sciatic nerves
• by 5 month of age, essentially all of the myelinated axons shows signs of extensive demyelination
• sciatic nerves from mutant animals at 1 month and 2 month of age showed normal myelin thickness compared to axonal diameter indicating myelinating Schwann cells are capable of attaining and a mature myelinated phenotype





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory