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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 (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at 62 days for males and 76 days for females (J:90418)
• maximum life span is 138 days for females (J:90418)
• at 62 days for males and 76 days for females (J:90418)
• maximum life span is 138 days for females (J:90418)

cardiovascular system
• few desmosomes (J:90418)
• few desmosomes (J:90418)
• attenuated (J:90418)
• attenuated (J:90418)
• degenerating and apoptotic (J:90418)
• nuclear blebbing (J:90418)
• degenerating and apoptotic (J:90418)
• nuclear blebbing (J:90418)
• secondary valvular insufficiency (J:90418)
• secondary valvular insufficiency (J:90418)
• as early as 4-6 weeks of age (J:90418)
• pale, flaccid, enlarged hearts with one or more thrombi (J:90418)
• as early as 4-6 weeks of age (J:90418)
• pale, flaccid, enlarged hearts with one or more thrombi (J:90418)
• prolonged P-R interval (J:90418)
• prolonged P-R interval (J:90418)
• attenuated, sometimes split (J:90418)
• attenuated, sometimes split (J:90418)
• prolonged and attenuated R waves (J:90418)
• prolonged and attenuated R waves (J:90418)
• decreased lower end systolic blood pressure (J:90418)
• decreased lower end systolic blood pressure (J:90418)

nervous system
• frequently show indications of secondary myelin degeneration (J:92862)
• sometimes lacking axons (J:92862)
• frequently show indications of secondary myelin degeneration (J:92862)
• sometimes lacking axons (J:92862)
• axon numbers in quadriceps nerves significantly decrease with age from 3 weeks on, 40% reduction by 12-14 weeks (J:92862)
• axon numbers in quadriceps nerves significantly decrease with age from 3 weeks on, 40% reduction by 12-14 weeks (J:92862)
• significant neuronal loss by 7 weeks in all lumbar ventral roots examined (J:90418)
• 56% of L4 motor axons lost (J:90418)
• numerous dystrophic axons in ventral roots (J:90418)
• most losses are of large axons (J:90418)
• 40% loss of small caliber axons (J:90418)
• significant neuronal loss by 7 weeks in all lumbar ventral roots examined (J:90418)
• 56% of L4 motor axons lost (J:90418)
• numerous dystrophic axons in ventral roots (J:90418)
• most losses are of large axons (J:90418)
• 40% loss of small caliber axons (J:90418)
• vacuolation occurs during the course of myelination or after myelination (J:92862)
• abnormal cytoskeletons (J:92862)
• process of myelination normal (J:92862)
• vacuolation occurs during the course of myelination or after myelination (J:92862)
• abnormal cytoskeletons (J:92862)
• process of myelination normal (J:92862)
• denervation of motor endplates increases dramatically as motor neuron degeneration progresses (J:92862)
• denervation of motor endplates increases dramatically as motor neuron degeneration progresses (J:92862)

muscle
• few desmosomes (J:90418)
• few desmosomes (J:90418)
• attenuated (J:90418)
• attenuated (J:90418)
• degenerating and apoptotic (J:90418)
• nuclear blebbing (J:90418)
• degenerating and apoptotic (J:90418)
• nuclear blebbing (J:90418)
• as early as 4-6 weeks of age (J:90418)
• pale, flaccid, enlarged hearts with one or more thrombi (J:90418)
• as early as 4-6 weeks of age (J:90418)
• pale, flaccid, enlarged hearts with one or more thrombi (J:90418)
• severe muscle wasting and hind limb contracture (J:90418)
• severe muscle wasting and hind limb contracture (J:90418)
• variable fiber size (J:90418)
• variable fiber size (J:90418)
• centralized nuclei in myocytes (J:90418)
• centralized nuclei in myocytes (J:90418)
• development of diaphragmatic muscle degeneration occurs late, around 8-14 weeks (J:92862)
• development of diaphragmatic muscle degeneration occurs late, around 8-14 weeks (J:92862)
• and fatty infiltration (J:90418)
• and fatty infiltration (J:90418)
• severe diffuse myocyte degeneration and regeneration (J:90418)
• severe diffuse myocyte degeneration and regeneration (J:90418)

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 (J:90418)
• 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 (J:90418)

respiratory system
• consolidation of lungs (J:90418)
• consolidation of lungs (J:90418)
• reduced breathing rate (bradypnea) (J:90418)
• reduced breathing rate (bradypnea) (J:90418)

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 (J:90418)
• 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 (J:90418)
• consolidation of lungs (J:90418)
• consolidation of lungs (J:90418)


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
01/26/2016
MGI 6.02
The Jackson Laboratory