All Phenotypes Gjb1<tm1Kwi> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gjb1^tm1Kwi
targeted mutation 1, Klaus Willecke
MGI:1857927

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129S4/SvJae	MGI:4821788
hm2	Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129S4/SvJae * C57BL/6	MGI:2176912
ht3	Gjb1^tm1Kwi/Gjb1⁺	involves: 129S4/SvJae * C57BL/6	MGI:4821791
cx4	Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:2669721
cx5	Gjb1^tm1Kwi/Y Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:5688778
cx6	Gjb1^tm1Kwi/Y Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5140119
cx7	Gjc2^tm1Paul/Gjc2^tm1Paul Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129/Sv * C57BL/6	MGI:2675155
ot8	Gjb1^tm1Kwi/Y	involves: 129S4/SvJae	MGI:4821790
ot9	Gjb1^tm1Kwi/Y	involves: 129S4/SvJae * C57BL/6	MGI:2176915

Allelic Composition	Gjb1^tm1Kwi/Gjb1^tm1Kwi
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)

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

behavior/neurological

behavior/neurological phenotype ( J:40955 )

N	• no obvious behavioral abnormalities

nervous system

abnormal nervous system morphology ( J:40955 )

• mutants develop late-onset progressive peripheral neuropathy with demyelination and remyelination of axons

abnormal Schwann cell morphology ( J:40955 )

• onion bulbs form in the quadriceps nerves, but only rarely in the saphenous nerves, of mutants older than 4 months of age, indicating myelin degeneration-induced Schwann cell proliferation

• noncompacted aspects of myelinating Schwann cells are abnormally organized, consisting of cytoplasm containing lysosomes, multivesicular bodies, and other vesicular structures

abnormal axon morphology ( J:40955 )

• peraxonal collars are enlarged in quadriceps nerve and saphenous nerve at 6 months of age

abnormal myelination ( J:40955 )

• the axons in the center of onion bulbs are thinly myelinated

demyelination ( J:40955 )

• myelin degeneration in quadriceps nerves

abnormal nerve conduction ( J:40955 )

• 4-6 month old mice exhibit a slight conduction slowing of peripheral nerves, an increase of the latency of the muscle response after distal stimulation of the sciatic nerve, and reduction of the M-amplitude after proximal sciatic nerve stimulation

• conduction abnormalities are milder in 1 year old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease X-linked dominant 1		DOID:0110209	OMIM:302800	J:40955

Allelic Composition	Gjb1^tm1Kwi/Gjb1^tm1Kwi
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)

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

growth/size/body

decreased body weight ( J:36146 )

• at 7-28 weeks of age, female homozygotes show a ~17% reduction in average body weight relative to wild-type controls

liver/biliary system

abnormal liver morphology ( J:36146 )

• female homozygotes show a ~1000-fold reduction in the total area of gap junctional plaques in the liver relative to wild-type controls

nervous system

nervous system phenotype ( J:36146 )

• young female homozygotes (2-4.5 months of age) show normal mixed afferent and motor nerve conduction in the sciatic nerve and no defects in the refractory periods and motor nerve conduction in the facial nerve relative to age-matched control mice

• no morphologic abnormalities of the myelin sheath are detected in the sciatic nerve at 3 months of age, as determined by electron microscopy

abnormal nervous system morphology ( J:85828 )

• mice develop a demyelinating peripheral neuropathy after 3 months of age

abnormal Schwann cell morphology ( J:85828 )

• onion bulbs, consisting of supernumerary Schwann cells around axons resulting from repeating demyelination and remyelination, develop between 5-12 months of age

• denervated Schwann cells are occasionally observed

• myelinated fibers show an accumulation of adaxonal Schwann cell cytoplasm

abnormal axon morphology ( J:85828 )

• internodes of 9 month old ventral root fibers are shorter and thinner, with abrupt changes in their lengths and myelin thickness along a single fiber

abnormal myelin sheath morphology ( J:85828 )

• remyelinated axons contain thin myelin sheaths

• some incisures appear to be abnormally widened

• nerves exhibit separation of the myelin sheath from the axon

• nerves exhibit splitting of the myelin sheath itself

• central nervous system myelin appears normal

demyelination ( J:85828 )

• demyelinated and remyelinated axons are seen by 3 months of age in motor and sensory branches of the femoral nerve and in the ventral and dorsal roots and in sciatic nerve

• number of demyelinated and remyelinated axons are increased further between 5-12 months of age in femoral and sciatic nerves

• motor fibers in the femoral and sciatic nerves and ventral roots are more affected than sensory fibers and dorsal roots

behavior/neurological

behavior/neurological phenotype ( J:85828 )

N	• no obvious behavioral abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease X-linked dominant 1		DOID:0110209	OMIM:302800	J:36146

Allelic Composition	Gjb1^tm1Kwi/Gjb1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)

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

nervous system

abnormal nervous system morphology ( J:85828 )

• heterozygous females develop a milder demyelinating peripheral neuropathy than seen in homozygous females or hemizygous males

abnormal Schwann cell morphology ( J:85828 )

• heterozygous females develop onion bulbs, consisting of supernumerary Schwann cells around axons resulting from repeating demyelination and remyelination

• accumulation of adaxonal Schwann cell cytoplasm

abnormal myelin sheath morphology ( J:85828 )

• nerves exhibit splitting of the myelin sheath itself

demyelination ( J:85828 )

• demyelinated and remyelinated axons are seen in motor and sensory branches of the femoral nerve, in the ventral and dorsal roots, and in sciatic nerve of 9 and 12 month old females

• femoral motor branch and ventral roots are more affected than the femoral sensory branch and the dorsal roots

Allelic Composition	Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi Gjb1^tm1Kwi/Gjb1^tm1Kwi
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)
Gjc2^tm1(EGFP)Kwi mutation (1 available); any Gjc2 mutation (22 available)

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

mortality/aging

premature death ( J:83885 , J:219594 )

• animals die at about 3 months of age (J:83885)

• mice begin to die from the 4th week of age and less than 20% survive beyond the 6th week and all die by 12 weeks (J:219594)

behavior/neurological

tremors ( J:83885 , J:219594 )

• mice express a phenotype similar to shiverer mice starting at about 3 to 4 weeks of age (J:83885)

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity (J:219594)

impaired coordination ( J:219594 )

• mice spend less time on the rotarod

abnormal gait ( J:219594 )

• mice exhibit an increase in missteps in the foot slip test

seizures ( J:83885 )

• mice express a phenotype similar to shiverer mice starting at about 3 to 4 weeks of age

tonic seizures ( J:83885 , J:219594 )

• the tremor phenotype eventually developed into tonic seizures and sporadic convulsions (J:83885)

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity (J:219594)

sporadic seizures ( J:83885 )

• the tremor phenotype eventually developed into tonic seizures and sporatic convulsions

hematopoietic system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

immune system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

nervous system

seizures ( J:83885 )

• mice express a phenotype similar to shiverer mice starting at about 3 to 4 weeks of age

tonic seizures ( J:83885 , J:219594 )

• the tremor phenotype eventually developed into tonic seizures and sporadic convulsions (J:83885)

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity (J:219594)

sporadic seizures ( J:83885 )

• the tremor phenotype eventually developed into tonic seizures and sporatic convulsions

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

astrocytosis ( J:219594 )

abnormal oligodendrocyte morphology ( J:219594 )

• oligodendrocytes are gap junction deficient

neurodegeneration ( J:83885 )

• vacuolated nerve fibers throughout the CNS were more severe than in the Gja12^{tm1(EGFP)Kwi)} single mutant

• vacuoles were prominent in the transition zone of the optic nerve, chiasma opticum, and spinal cord

axon degeneration ( J:219594 )

• axonal degeneration of oligodendrocytes in the spinal cord funiculi and the optic nerve

abnormal myelination ( J:83885 )

• myelination was delayed compared to wild-type littermates

• peripheral myelin was unaffected in mice examined at 4 weeks of age

demyelination ( J:219594 )

• severe demyelination of oligodendrocytes in the spinal cord funiculi and the optic nerve

dysmyelination ( J:219594 )

• some large axons in the anterior and posterior funiculi of the spinal cord are thinly myelinated

cellular

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 2		DOID:0060787	OMIM:608804	J:219594

Allelic Composition	Gjb1^tm1Kwi/Y Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:219594 )

• mice begin to die from the 4th week of age and less than 20% survive beyond the 6th week and all die by 12 weeks

behavior/neurological

tremors ( J:219594 )

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity

impaired coordination ( J:219594 )

• mice spend less time on the rotarod

abnormal gait ( J:219594 )

• mice exhibit an increase in missteps in the foot slip test

tonic seizures ( J:219594 )

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity

hematopoietic system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

immune system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

cellular

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

nervous system

tonic seizures ( J:219594 )

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

astrocytosis ( J:219594 )

abnormal oligodendrocyte morphology ( J:219594 )

• oligodendrocytes are gap junction deficient

axon degeneration ( J:219594 )

• axonal degeneration of oligodendrocytes in the spinal cord funiculi and the optic nerve

demyelination ( J:219594 )

• severe demyelination of oligodendrocytes in the spinal cord funiculi and the optic nerve

dysmyelination ( J:219594 )

• some large axons in the anterior and posterior funiculi of the spinal cord are thinly myelinated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 2		DOID:0060787	OMIM:608804	J:219594

Allelic Composition	Gjb1^tm1Kwi/Y Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi
Genetic Background	involves: 129S4/SvJae * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)
Gjc2^tm2.1Kwi mutation (1 available); any Gjc2 mutation (22 available)

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

Insufficient myelination resulting from loss of Gjc2 (Cx47) function is largely compensated in adult Gjc2^tm2.1Kwi/Gjc2⁺ and Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi mice

mortality/aging

premature death ( J:174197 )

• begin to die at 42 days of age

nervous system

astrocytosis ( J:174197 )

abnormal myelination ( J:174197 )

• only minimal amounts of myelin protein are detected in cerebellar lysates

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:174197 )

• severe motor impairment in mice that reach 3 months of age

ataxia ( J:174197 )

• develops a few days before death

Allelic Composition	Gjc2^tm1Paul/Gjc2^tm1Paul Gjb1^tm1Kwi/Gjb1^tm1Kwi
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)
Gjc2^tm1Paul mutation (0 available); any Gjc2 mutation (22 available)

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

mortality/aging

premature death ( J:84338 )

• animals die around 6 weeks of age

behavior/neurological

tremors ( J:84338 )

• coarse action tremor developed during the third week of age

• tremor was accentuated with movement

• condition worsened with time

tonic seizures ( J:84338 )

• develop by week 4-5

• characterized by limb extension and loss of consciousness

• frequency and severity increased until death around week 6

vision/eye

absent optic nerve ( J:84338 )

• delayed myelination in optic nerve

• no myelin sheath at day 7

• myelination abnormalities appear as myelination increased

nervous system

tonic seizures ( J:84338 )

• develop by week 4-5

• characterized by limb extension and loss of consciousness

• frequency and severity increased until death around week 6

absent optic nerve ( J:84338 )

• delayed myelination in optic nerve

• no myelin sheath at day 7

• myelination abnormalities appear as myelination increased

abnormal myelination ( J:84338 )

• thin myelin sheaths

• enlarged extra cellular spaces under sheaths

• abnormal oligodendrocytes

• empty myelin sheaths

• variability from one tract to another in conditions observed

• apoptotic cells in affected tracts

demyelination ( J:84338 )

• demyelinated axons

Allelic Composition	Gjb1^tm1Kwi/Y
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)

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

behavior/neurological

behavior/neurological phenotype ( J:40955 )

N	• no obvious behavioral abnormalities

nervous system

abnormal nervous system morphology ( J:40955 )

• mutants develop late-onset progressive peripheral neuropathy with demyelination and remyelination of axons

abnormal Schwann cell morphology ( J:40955 )

• onion bulbs form in the quadriceps nerves, but only rarely in the saphenous nerves, of mutants older than 4 months of age, indicating myelin degeneration-induced Schwann cell proliferation

• noncompacted aspects of myelinating Schwann cells are abnormally organized, consisting of cytoplasm containing lysosomes, multivesicular bodies, and other vesicular structures

abnormal axon morphology ( J:40955 )

• peraxonal collars are enlarged in quadriceps nerve and saphenous nerve at 6 months of age

abnormal myelination ( J:40955 )

• the axons in the center of onion bulbs are thinly myelinated

demyelination ( J:40955 )

• myelin degeneration in quadriceps nerves

abnormal nerve conduction ( J:40955 )

• conduction abnormalities are milder in 1 year old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease X-linked dominant 1		DOID:0110209	OMIM:302800	J:40955

Allelic Composition	Gjb1^tm1Kwi/Y
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)

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

growth/size/body

decreased body weight ( J:36146 )

• at 7-28 weeks of age, male hemizygotes show a ~17% reduction in average body weight relative to wild-type controls

liver/biliary system

increased liver glycogen level ( J:36146 )

• male hemizygotes show a ~10% increase in the maximal amount of glycogen accumulated in liver during the diurnal rhythm relative to wild-type controls

• since the degradation of glycogen is similar, the minimal amount is reached 2 hrs later in mutant liver than in wild-type liver

abnormal liver physiology ( J:36146 )

• after electrical stimulation of the sympathetic plexus, male hemizygotes show a 78% reduction in the release of glucose from liver relative to wild-type controls

• in contrast, glucose release from liver upon infusion of noradrenaline or glucagon is comparable to that observed in wild-type control livers

homeostasis/metabolism

increased liver glycogen level ( J:36146 )

• male hemizygotes show a ~10% increase in the maximal amount of glycogen accumulated in liver during the diurnal rhythm relative to wild-type controls

• since the degradation of glycogen is similar, the minimal amount is reached 2 hrs later in mutant liver than in wild-type liver

nervous system

nervous system phenotype ( J:36146 )

• young male hemizygotes (2-4.5 months of age) show normal mixed afferent and motor nerve conduction in the sciatic nerve and no defects in the refractory periods and motor nerve conduction in the facial nerve relative to age-matched control mice

• no morphologic abnormalities of the myelin sheath are detected in the sciatic nerve at 3 months of age, as determined by electron microscopy

abnormal nervous system morphology ( J:85828 )

• mice develop a demyelinating peripheral neuropathy after 3 months of age

abnormal Schwann cell morphology ( J:85828 )

• onion bulbs, consisting of supernumerary Schwann cells around axons resulting from repeating demyelination and remyelination, develop between 5-12 months of age

• denervated Schwann cells are occasionally observed

• myelinated fibers show an accumulation of adaxonal Schwann cell cytoplasm

abnormal axon morphology ( J:85828 )

• internodes of 9 month old ventral root fibers are shorter and thinner, with abrupt changes in their lengths and myelin thickness along a single fiber

abnormal myelin sheath morphology ( J:85828 )

• remyelinated axons contain thin myelin sheaths

• some incisures appear to be abnormally widened

• nerves exhibit separation of the myelin sheath from the axon

• nerves exhibit splitting of the myelin sheath itself

• central nervous system myelin appears normal

demyelination ( J:85828 )

• demyelinated and remyelinated axons are seen by 3 months of age in motor and sensory branches of the femoral nerve and in the ventral and dorsal roots and in sciatic nerve

• number of demyelinated and remyelinated axons are increased further between 5-12 months of age in femoral and sciatic nerves

• motor fibers in the femoral and sciatic nerves and ventral roots are more affected than sensory fibers and dorsal roots

behavior/neurological

behavior/neurological phenotype ( J:85828 )

N	• no obvious behavioral abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease X-linked dominant 1		DOID:0110209	OMIM:302800	J:36146

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