All Phenotypes Ighmbp2<nmd-2J> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ighmbp2^nmd-2J
neuromuscular degeneration 2 Jackson
MGI:1857648

Summary

13 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J	B6.BKS-Ighmbp2^nmd-2J/J	MGI:3603515
hm2	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J	BKS.Cg Dock7^m +/+ Lepr^db-Ighmbp2^nmd-2J	MGI:3603467
cx3	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)17Cx/? Tg(Ttn-Ighmbp2)45Cx/?	involves: C57BL/6J * C57BLKS/J	MGI:3785263
cx4	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)17Cx/?	involves: C57BL/6J * C57BLKS/J	MGI:3765069
cx5	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Ttn-Ighmbp2)45Cx/?	involves: C57BL/6J * C57BLKS/J	MGI:3785080
cx6	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Ttn-Ighmbp2)108Cx/?	involves: C57BL/6J * C57BLKS/J	MGI:3785081
cx7	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)17Cx/? Tg(Ttn-Ighmbp2)108Cx/?	involves: C57BL/6J * C57BLKS/J	MGI:3785245
cx8	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)90Cx/?	involves: C57BL/6J * C57BLKS/J	MGI:3785251
cx9	Cmn1^CAST/Ei/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J	MGI:3612512
cx10	Cmn2^CAST/Ei/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J	MGI:3612513
cx11	Cmn3^CAST/Ei/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J	MGI:3612514
cx12	Cmn3^C57BL/6J/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J	MGI:3612515
cx13	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J	MGI:3603516

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J
Genetic Background	B6.BKS-Ighmbp2^nmd-2J/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:90418 )

• at 62 days for males and 76 days for females

• maximum life span is 138 days for females

cardiovascular system

abnormal heart morphology ( J:90418 )

abnormal myocardial fiber morphology ( J:90418 )

• few desmosomes

abnormal intercalated disk morphology ( J:90418 )

• attenuated

myocardial fiber degeneration ( J:90418 )

• degenerating and apoptotic

• nuclear blebbing

myocardium necrosis ( J:90418 )

dilated heart atrium ( J:90418 )

abnormal heart valve morphology ( J:90418 )

• secondary valvular insufficiency

abnormal heart ventricle morphology ( J:90418 )

thin ventricular wall ( J:90418 )

dilated heart ventricle ( J:90418 )

cardiac interstitial fibrosis ( J:90418 )

abnormal cardiovascular system physiology ( J:90418 )

dilated cardiomyopathy ( J:90418 )

• as early as 4-6 weeks of age

• pale, flaccid, enlarged hearts with one or more thrombi

increased heart rate variability ( J:90418 )

decreased heart rate ( J:90418 )

abnormal impulse conducting system conduction ( J:90418 )

prolonged PR interval ( J:90418 )

• prolonged P-R interval

prolonged P wave ( J:90418 )

• attenuated, sometimes split

abnormal QRS complex ( J:90418 )

• prolonged and attenuated R waves

decreased systemic arterial systolic blood pressure ( J:90418 )

• decreased lower end systolic blood pressure

nervous system

abnormal Schwann cell morphology ( J:92862 )

• frequently show indications of secondary myelin degeneration

• sometimes lacking axons

abnormal innervation pattern to muscle ( J:92862 )

• axon numbers in quadriceps nerves significantly decrease with age from 3 weeks on, 40% reduction by 12-14 weeks

motor neuron degeneration ( J:90418 )

• 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

abnormal axon morphology ( J:92862 )

• vacuolation occurs during the course of myelination or after myelination

• abnormal cytoskeletons

• process of myelination normal

abnormal neuromuscular synapse morphology ( J:92862 )

• denervation of motor endplates increases dramatically as motor neuron degeneration progresses

muscle

abnormal myocardial fiber morphology ( J:90418 )

• few desmosomes

abnormal intercalated disk morphology ( J:90418 )

• attenuated

myocardial fiber degeneration ( J:90418 )

• degenerating and apoptotic

• nuclear blebbing

myocardium necrosis ( J:90418 )

dilated cardiomyopathy ( J:90418 )

• as early as 4-6 weeks of age

• pale, flaccid, enlarged hearts with one or more thrombi

skeletal muscle fiber atrophy ( J:90418 )

• severe muscle wasting and hind limb contracture

increased variability of skeletal muscle fiber size ( J:90418 )

• variable fiber size

centrally nucleated skeletal muscle fibers ( J:90418 )

• centralized nuclei in myocytes

abnormal diaphragm morphology ( J:92862 )

• development of diaphragmatic muscle degeneration occurs late, around 8-14 weeks

skeletal muscle interstitial fibrosis ( J:90418 )

• and fatty infiltration

muscle degeneration ( J:90418 )

• severe diffuse myocyte degeneration and regeneration

behavior/neurological

decreased grip strength ( 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

respiratory system

pulmonary edema ( J:90418 )

• consolidation of lungs

pleural effusion ( J:90418 )

decreased pulmonary respiratory rate ( J:90418 )

• reduced breathing rate (bradypnea)

growth/size/body

weight loss ( J:90418 )

homeostasis/metabolism

increased circulating creatine kinase level ( 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

pulmonary edema ( J:90418 )

• consolidation of lungs

pleural effusion ( J:90418 )

cellular

myocardium necrosis ( J:90418 )

cardiac interstitial fibrosis ( J:90418 )

abnormal cell cytoskeleton morphology ( J:92862 )

• 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

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J
Genetic Background	BKS.Cg Dock7^m +/+ Lepr^db-Ighmbp2^nmd-2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:23584 )

• death usually by 3.5 weeks although survival for several months is possible if left with parents without normal siblings present

behavior/neurological

limb grasping ( J:23584 )

• clench hindlimbs when picked up by the tail

abnormal grip strength ( J:23584 )

• unable to grasp cage cover when set upon it

abnormal gait ( J:23584 )

• rely on forelimbs to crawl forward, but balance and righting responses are normal

hindlimb paralysis ( J:23584 )

• dorsally contracted hindlimbs cannot be extended to stand erect or assume full posture on four limbs

muscle

abnormal masseter muscle morphology ( J:23584 )

• atrophic muscle fibers in the masseter

abnormal temporalis muscle morphology ( J:23584 )

• atrophic muscle fibers in the temporalis muscle

abnormal skeletal muscle fiber morphology ( J:23584 )

• intermixture of very small muscle fibers with more normal fibers

• distal musculature of limbs more severely affected but focal areas of muscle degeneration proximally as well

nervous system

abnormal innervation pattern to muscle ( J:23584 )

• affected alpha motor neurons with pale staining nuclei and perikarya

• mostly in lumbar region

craniofacial

abnormal masseter muscle morphology ( J:23584 )

• atrophic muscle fibers in the masseter

abnormal temporalis muscle morphology ( J:23584 )

• atrophic muscle fibers in the temporalis muscle

growth/size/body

abnormal masseter muscle morphology ( J:23584 )

• atrophic muscle fibers in the masseter

abnormal temporalis muscle morphology ( J:23584 )

• atrophic muscle fibers in the temporalis muscle

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)17Cx/? Tg(Ttn-Ighmbp2)45Cx/?
Genetic Background	involves: C57BL/6J * C57BLKS/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Tg(Eno2-Ighmbp2)17Cx mutation (1 available)
Tg(Ttn-Ighmbp2)45Cx mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

increased heart weight ( J:102748 )

• increased heart weight proportionally distributed throughout all 4 chambers, but aside from this the presence of both transgenes rescues nmd-2J homozygotes to a wild-type phenotype including no cardiomyopathy

growth/size/body

increased heart weight ( J:102748 )

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)17Cx/?
Genetic Background	involves: C57BL/6J * C57BLKS/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Tg(Eno2-Ighmbp2)17Cx mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:90418 )

• at 49 days for males and 54 days for females

• maximum life span is 87 days for females

cardiovascular system

abnormal cardiovascular system physiology ( J:90418 )

dilated cardiomyopathy ( J:90418 )

• grossly dilated hearts with one or more thrombi

abnormal impulse conducting system conduction ( J:90418 )

prolonged PR interval ( J:90418 )

• prolonged P-R interval

prolonged P wave ( J:90418 )

• sometimes split

prolonged QRS complex duration ( J:90418 )

• prolonged

muscle

muscle phenotype ( J:90418 )

N	• grossly normal hind limb muscle phenotype

dilated cardiomyopathy ( J:90418 )

• grossly dilated hearts with one or more thrombi

muscle degeneration ( J:90418 )

• mild myopathic changes including myocyte degeneration and regeneration with centralized nucleii

nervous system

nervous system phenotype ( J:90418 )

N	• axon morphology and nerve root diameters are normal

respiratory system

pulmonary edema ( J:90418 )

• consolidation of lungs

pleural effusion ( J:90418 )

decreased pulmonary respiratory rate ( J:90418 )

• reduced breathing rate (bradypnea)

growth/size/body

weight loss ( J:90418 )

homeostasis/metabolism

increased circulating creatine kinase level ( 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

pulmonary edema ( J:90418 )

• consolidation of lungs

pleural effusion ( J:90418 )

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Ttn-Ighmbp2)45Cx/?
Genetic Background	involves: C57BL/6J * C57BLKS/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Tg(Ttn-Ighmbp2)45Cx mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:102748 )

• lifespan is longer than that of nmd-2J mutants but shorter than that of the wild-type controls and falls partway between the two points

nervous system

motor neuron degeneration ( J:102748 )

• severe skeletal muscle neurogenic atrophy

muscle

muscle degeneration ( J:102748 )

• resulting from the spinal motor neuron degeneration

behavior/neurological

abnormal food intake ( J:102748 )

dysphagia ( J:102748 )

• difficulty in mastication or deglutition

cardiovascular system

cardiovascular system phenotype ( J:102748 )

N	• mean ventricular free-wall thickness is normal

digestive/alimentary system

dysphagia ( J:102748 )

• difficulty in mastication or deglutition

enlarged esophagus ( J:102748 )

• susceptible to mega-esophagus

growth/size/body

enlarged esophagus ( J:102748 )

• susceptible to mega-esophagus

weight loss ( J:102748 )

• the presence of the transgene does not rescue the weight loss found in nmd-2J homozygotes

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Ttn-Ighmbp2)108Cx/?
Genetic Background	involves: C57BL/6J * C57BLKS/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Tg(Ttn-Ighmbp2)108Cx mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:102748 )

• lifespan is longer than that of nmd-2J mutants but shorter than that of wild-type controls and falls partway between the two points

nervous system

motor neuron degeneration ( J:102748 )

• severe skeletal muscle neurogenic atrophy

muscle

muscle degeneration ( J:102748 )

• resulting from the spinal motor neuron degeneration

behavior/neurological

abnormal food intake ( J:102748 )

dysphagia ( J:102748 )

• difficulty in mastication or deglutition

cardiovascular system

cardiovascular system phenotype ( J:102748 )

N	• mean ventricular free-wall thickness is normal

digestive/alimentary system

dysphagia ( J:102748 )

• difficulty in mastication or deglutition

enlarged esophagus ( J:102748 )

• susceptible to mega-esophagus

growth/size/body

enlarged esophagus ( J:102748 )

• susceptible to mega-esophagus

weight loss ( J:102748 )

• the presence of the transgene does not rescue the weight loss found in nmd-2J homozygotes

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)17Cx/? Tg(Ttn-Ighmbp2)108Cx/?
Genetic Background	involves: C57BL/6J * C57BLKS/J

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

increased heart weight ( J:102748 )

growth/size/body

increased heart weight ( J:102748 )

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Tg(Eno2-Ighmbp2)90Cx/?
Genetic Background	involves: C57BL/6J * C57BLKS/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Tg(Eno2-Ighmbp2)90Cx mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:90418 )

• phenotype is stated to be identical to that observed when Tg(Eno2-Ighmbp2)17Cx mice are used in this cross (GA Cox, personal communication)

growth/size/body

weight loss ( J:90418 )

cardiovascular system

abnormal cardiovascular system physiology ( J:90418 )

dilated cardiomyopathy ( J:90418 )

abnormal impulse conducting system conduction ( J:90418 )

abnormal PR interval ( J:90418 )

prolonged P wave ( J:90418 )

abnormal QRS complex ( J:90418 )

muscle

muscle phenotype ( J:90418 )

dilated cardiomyopathy ( J:90418 )

muscle degeneration ( J:90418 )

respiratory system

pulmonary edema ( J:90418 )

decreased pulmonary respiratory rate ( J:90418 )

nervous system

nervous system phenotype ( J:90418 )

homeostasis/metabolism

pulmonary edema ( J:90418 )

Allelic Composition	Cmn1^CAST/Ei/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C
Genetic Background	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmn1^CAST/Ei mutation (0 available); any Cmn1 mutation (0 available)
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Mnm^C mutation (0 available); any Mnm mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy

• increased survival time

muscle

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy

• increased survival time

Allelic Composition	Cmn2^CAST/Ei/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C
Genetic Background	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmn2^CAST/Ei mutation (0 available); any Cmn2 mutation (0 available)
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Mnm^C mutation (0 available); any Mnm mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy

• increased survival time

muscle

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy

• increased survival time

Allelic Composition	Cmn3^CAST/Ei/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C
Genetic Background	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmn3^CAST/Ei mutation (0 available); any Cmn3 mutation (0 available)
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Mnm^C mutation (0 available); any Mnm mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy in males

• increased survival time in males

muscle

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy in males

• increased survival time in males

Allelic Composition	Cmn3^C57BL/6J/? Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C
Genetic Background	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmn3^C57BL/6J mutation (0 available); any Cmn3 mutation (0 available)
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Mnm^C mutation (0 available); any Mnm mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy in females

• increased survival time in females

muscle

dilated cardiomyopathy ( J:102748 )

• resistance to dilated cardiomyopathy in females

• increased survival time in females

Allelic Composition	Ighmbp2^nmd-2J/Ighmbp2^nmd-2J Mnm^C/Mnm^C
Genetic Background	involves: C57BL/6J * C57BLKS/J * CAST/Ei * DBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmbp2^nmd-2J mutation (5 available); any Ighmbp2 mutation (46 available)
Mnm^C mutation (0 available); any Mnm mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:51890 , J:90418 )

• Background Sensitivity: survival to as long as 7 months of age, but less as the B6 component of the background increases (J:51890)

cardiovascular system

abnormal cardiovascular system physiology ( J:90418 )

dilated cardiomyopathy ( J:90418 )

• grossly dilated hearts with one or more thrombi

abnormal impulse conducting system conduction ( J:90418 )

prolonged PR interval ( J:90418 )

• prolonged P-R interval

prolonged P wave ( J:90418 )

• sometimes split

prolonged QRS complex duration ( J:90418 )

nervous system

abnormal innervation pattern to muscle ( J:51890 )

• fewer dying neurons

motor neuron degeneration ( J:90418 )

• modest reduction in lumbar ventral root diameter

• 26% of L4 motor axons lost

• occasional dystrophic axons in ventral roots

• 25% loss of small caliber axons

behavior/neurological

decreased grip strength ( J:90418 )

• shorter latence to fall when suspended from a wire cage top

muscle

dilated cardiomyopathy ( J:90418 )

• grossly dilated hearts with one or more thrombi

muscle degeneration ( J:90418 )

• moderate myopathic changes

muscular atrophy ( J:51890 )

• milder muscle atrophy

respiratory system

pulmonary edema ( J:90418 )

• consolidation of lungs

pleural effusion ( J:90418 )

decreased pulmonary respiratory rate ( J:90418 )

• reduced breathing rate (bradypnea)

growth/size/body

weight loss ( J:90418 )

homeostasis/metabolism

increased circulating creatine kinase level ( 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

pulmonary edema ( J:90418 )

• consolidation of lungs

pleural effusion ( J:90418 )

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