About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ighmbp2em5Cx
endonuclease-mediated mutation 5, Gregory Cox
MGI:7495802
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ighmbp2em5Cx/Ighmbp2em5Cx C57BL/6J-Ighmbp2em5Cx/Cx MGI:7495806
ht2
Ighmbp2em5Cx/Ighmbp2+ C57BL/6J-Ighmbp2em5Cx/Cx MGI:7495909


Genotype
MGI:7495806
hm1
Allelic
Composition
Ighmbp2em5Cx/Ighmbp2em5Cx
Genetic
Background
C57BL/6J-Ighmbp2em5Cx/Cx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2em5Cx mutation (0 available); any Ighmbp2 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• latency to fall in the inverted wire hang test is much shorter even at 3 weeks of age

growth/size/body

nervous system
• at 16 weeks of age the neuromuscular junction of the assessed skeletal muscle had the majority of junctions denervated and an additional number partially denervated
• By 8 weeks 13% reduction in the sensory branch and 34% reduction in the motor branch of the femoral nerve
• sciatic nerve cell conduction velocity is significantly reduce in homozygotes and reduced to an intermediate level in heterozygotes, which is distinct from the em1Cx allele which does not show this reduction

muscle
• hindlimb wasting and decreased body weight with motor function deficits evident by 3 weeks

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease axonal type 2S DOID:0110171 OMIM:616155
J:337488




Genotype
MGI:7495909
ht2
Allelic
Composition
Ighmbp2em5Cx/Ighmbp2+
Genetic
Background
C57BL/6J-Ighmbp2em5Cx/Cx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2em5Cx mutation (0 available); any Ighmbp2 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• sciatic nerve cell conduction velocity is significantly reduce in heterozygotes to a level intermediate between wildtype and homozygotes





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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/30/2024
MGI 6.23
The Jackson Laboratory