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Phenotypes Associated with This Genotype
Genotype
MGI:3706664
Allelic
Composition
Nebtm1Slbt/Nebtm1Slbt
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nebtm1Slbt mutation (0 available); any Neb mutation (160 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the remaining 10% of animals die during their third week
• about 90% die within the first 2 weeks after birth

growth/size/body
• already growth-retarded at day 1 after birth and over the full postnatal range that was tested

behavior/neurological
• develop a stiff gait

skeleton

vision/eye
• severe muscle weakness as indicated by ptosis

muscle
• the absence of H-zones
• shorter thin filaments
• maximal active tension of skinned muscle fibers is significantly reduced
• between day 10 and 20
• indicated by their inability to climb, hold their weight when clinging to a spatula, and inability to keep their eyes open
• able to walk up to week 3

Mouse Models of Human Disease
OMIM ID Ref(s)
Nemaline Myopathy 2; NEM2 256030 J:149329


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory