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Phenotypes Associated with This Genotype
Genotype
MGI:3603515
Allelic
Composition
Ighmbp2nmd-2J/Ighmbp2nmd-2J
Genetic
Background
B6.BKS-Ighmbp2nmd-2J/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at 62 days for males and 76 days for females
• maximum life span is 138 days for females

cardiovascular system
• degenerating and apoptotic
• nuclear blebbing
• secondary valvular insufficiency
• as early as 4-6 weeks of age
• pale, flaccid, enlarged hearts with one or more thrombi
• prolonged P-R interval
• attenuated, sometimes split
• prolonged and attenuated R waves
• decreased lower end systolic blood pressure

nervous system
• frequently show indications of secondary myelin degeneration
• sometimes lacking axons
• axon numbers in quadriceps nerves significantly decrease with age from 3 weeks on, 40% reduction by 12-14 weeks
• significant neuronal loss by 7 weeks in all lumbar ventral roots examined
• 56% of L4 motor axons lost
• numerous dystrophic axons in ventral roots
• most losses are of large axons
• 40% loss of small caliber axons
• vacuolation occurs during the course of myelination or after myelination
• abnormal cytoskeletons
• process of myelination normal
• denervation of motor endplates increases dramatically as motor neuron degeneration progresses

muscle
• degenerating and apoptotic
• nuclear blebbing
• as early as 4-6 weeks of age
• pale, flaccid, enlarged hearts with one or more thrombi
• severe muscle wasting and hind limb contracture
• centralized nuclei in myocytes
• development of diaphragmatic muscle degeneration occurs late, around 8-14 weeks
• and fatty infiltration
• severe diffuse myocyte degeneration and regeneration

behavior/neurological
• much shorter latency to fall when suspended from a wire cage top much shorter latence to fall when suspended from a wire cage top much shorter latence to fall when suspended from a wire cage top much shorter latence to fall when suspended from a wire cage top

respiratory system
• consolidation of lungs
• reduced breathing rate (bradypnea)

growth/size/body

homeostasis/metabolism
• 3-7 days prior to clearly evident clinical signs of heart disease, total plasma CK and cardiac-specific CK-MB levels in 5- to 9-week-old mice become significantly elevated
• consolidation of lungs

cellular
• abnormal cytoskeletons in axons

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive distal hereditary motor neuronopathy 1 DOID:0111064 OMIM:604320
J:92862


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)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory