Phenotypes associated with this allele

• Allele Symbol: Ntf3^tm1Jae
• Allele Name: targeted mutation 1, Rudolf Jaenisch
• Allele ID: MGI:1857232
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ntf3^tm1Jae/Ntf3^tm1Jae	involves: 129S4/SvJae	MGI:3052165
hm2	Ntf3^tm1Jae/Ntf3^tm1Jae	involves: 129S4/SvJae * BALB/c	MGI:2175176
hm3	Ntf3^tm1Jae/Ntf3^tm1Jae	involves: 129S4/SvJae * C57BL/6	MGI:3720885
hm4	Ntf3^tm1Jae/Ntf3^tm1Jae	involves: 129S4/SvJae * C57BL/6J	MGI:3044433
ht5	Ntf3^tm1Jae/Ntf3^+	involves: 129S4/SvJae * BALB/c	MGI:2175177
cx6	Bax^tm1Sjk/Bax^tm1Sjk Ntf3^tm1Jae/Ntf3^tm1Jae	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:3720886
cx7	Ngfr^tm1Jae/Ngfr^tm1Jae Ntf3^tm1Jae/Ntf3^+	involves: 129S4/SvJae * BALB/c	MGI:3770676
cx8	Ngfr^tm1Jae/Ngfr^tm1Jae Ntf3^tm1Jae/Ntf3^tm1Jae	involves: 129S4/SvJae * BALB/c	MGI:3770678
cx9	Ntf3^tm1Jae/Ntf3^tm1Jae Tg(Myog-Ntf3)5160Wds/0	involves: C57BL/6 * CBA * CF-1	MGI:3052162

Genotype
MGI:3052165

hm1

• Allelic Composition: Ntf3^tm1Jae/Ntf3^tm1Jae
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

postnatal lethality, complete penetrance ( J:43444 )

• mutants die soon after birth from cardiac defects

nervous system

absent muscle spindles ( J:43444 )

• no spindle bundles are seen

abnormal dorsal root ganglion morphology ( J:43444 )

• a 63% decrease compared to wild-type in the overall number of dorsal root ganglia neurons at L4 is seen in newborn mice

absent proprioceptive neurons ( J:43444 )

• essentially no proprioceptive neurons are present

muscle

absent muscle spindles ( J:43444 )

• no spindle bundles are seen

Genotype
MGI:2175176

hm2

• Allelic Composition: Ntf3^tm1Jae/Ntf3^tm1Jae
• Genetic Background: involves: 129S4/SvJae * BALB/c

mortality/aging

postnatal lethality, complete penetrance ( J:23882 )

• by 3 weeks of age

behavior/neurological

ataxia ( J:23882 )

• limb ataxia

impaired limb coordination ( J:23882 )

• display an inability to position the extremities properly when attempting to move

abnormal sensory capabilities/reflexes/nociception ( J:23882 )

• exhibit a tendency of all four limbs to intermittently stiffen in an extensor posture

growth/size/body

decreased body size ( J:23882 )

• retardation

decreased body weight ( J:62748 )

• weigh 20% less than controls at birth

muscle

abnormal muscle morphology ( J:23882 )

absent golgi tendon organ ( J:23882 )

absent muscle spindles ( J:23882 )

• absent muscle spindles

nervous system

absent golgi tendon organ ( J:23882 )

absent muscle spindles ( J:23882 )

• absent muscle spindles

abnormal stellate ganglion morphology ( J:62748 )

• fewer stellate ganglion neurons at P0 and P60 than in heterozygotes or wild-type

small superior cervical ganglion ( J:23882 )

small mesencephalic trigeminal nucleus ( J:23882 )

abnormal innervation pattern to muscle ( J:23882 )

• show no evidence of afferent nerve fiber-muscle contacts

small trigeminal ganglion ( J:23882 )

small nodose ganglion ( J:23882 )

abnormal dorsal root ganglion morphology ( J:23882 )

• loss of carbonic anhydrase (CA) positive neurons, which are mostly L4 dorsal root ganglion neurons

abnormal proprioceptive neuron morphology ( J:23882 )

• central branch of the proprioceptive Ia fibers innvervating spinal cord layer IX is absent

small dorsal root ganglion ( J:23882 )

Genotype
MGI:3720885

hm3

• Allelic Composition: Ntf3^tm1Jae/Ntf3^tm1Jae
• Genetic Background: involves: 129S4/SvJae * C57BL/6

nervous system

absent muscle spindles ( J:83461 )

• no muscle spindles are found in the soleus muscle during development and at later stages

abnormal dorsal root ganglion morphology ( J:83461 )

• 70% of dorsal root ganglia neurons are lost relative to in wild-type mice

absent proprioceptive neurons ( J:83461 )

• proprioceptive neurons are lost

muscle

absent muscle spindles ( J:83461 )

• no muscle spindles are found in the soleus muscle during development and at later stages

Genotype
MGI:3044433

hm4

• Allelic Composition: Ntf3^tm1Jae/Ntf3^tm1Jae
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

nervous system

abnormal innervation pattern to muscle ( J:90280 )

• on P1 the fungiform papillae of the tongue are partially denervated

abnormal sensory neuron innervation pattern ( J:90280 )

• innervation of the somatosensory prominences is virtually absent

Genotype
MGI:2175177

ht5

• Allelic Composition: Ntf3^tm1Jae/Ntf3⁺
• Genetic Background: involves: 129S4/SvJae * BALB/c

nervous system

abnormal stellate ganglion morphology ( J:62748 )

• fewer stellate ganglion neurons at P0 and P60 than in wild-type

decreased sensory neuron number ( J:53825 )

• mice exhibit a 17% loss in sensory neurons in the dorsal root ganglion

abnormal dorsal root ganglion morphology ( J:53825 )

• mice exhibit a loss of myelinated fibers in the dorsal root ganglion

cardiovascular system

abnormal cardiovascular system physiology ( J:62748 )

• adults exhibit lower sympathetic tonus than wild-type

decreased heart rate ( J:62748 )

• adults exhibit lower resting heart rates than wild-type

homeostasis/metabolism

abnormal noradrenaline level ( J:62748 )

• 37% decrease in adult heart ventricular norepinephrine concentrations, however no differences seen at birth

muscle

abnormal muscle morphology ( J:23882 , J:53825 )

• 50% reduction of muscle spindles (J:23882)

• muscles exhibit fewer myelinated fibers than in wild-type mice (52+/-4 compared to 76+/-2 in wild-type mice) (J:53825)

Genotype
MGI:3720886

cx6

• Allelic Composition: Bax^tm1Sjk/Bax^tm1Sjk; Ntf3^tm1Jae/Ntf3^tm1Jae
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6

nervous system

absent muscle spindles ( J:83461 )

• no muscle spindles are found in the soleus muscle during development and at later stages

abnormal dorsal root ganglion morphology ( J:83461 )

• the number of dorsal root ganglia neurons in L4 is increased by 50% relative to in wild-type mice

• while proprioceptive neurons are retained, the somata is reduced by 70%

abnormal proprioceptive neuron morphology ( J:83461 )

• proprioceptive neurons fail to innervate their target muscles

• proprioceptive axons fail to extend into the ventral horn

muscle

absent muscle spindles ( J:83461 )

• no muscle spindles are found in the soleus muscle during development and at later stages

Genotype
MGI:3770676

cx7

• Allelic Composition: Ngfr^tm1Jae/Ngfr^tm1Jae; Ntf3^tm1Jae/Ntf3⁺
• Genetic Background: involves: 129S4/SvJae * BALB/c

mortality/aging

postnatal lethality, incomplete penetrance ( J:53825 )

• few mice survive past 3 weeks of age

nervous system

decreased muscle spindle number ( J:53825 )

• spindle density in the soleus, the medial gastrocnemius, plantaris and lumbrical muscles is reduced 50% compared to in wild-type mice

absent muscle spindles ( J:53825 )

• 31% of soleus muscles are devoid of muscle spindles

decreased sensory neuron number ( J:53825 )

• mice exhibit a 78% loss in sensory neurons in the dorsal root ganglion

abnormal dorsal root ganglion morphology ( J:53825 )

• mice exhibit a loss of 82% myelinated fibers in the dorsal root ganglion

• mice exhibit a loss of 75% of dorsal root ganglion neurons

abnormal proprioceptive neuron morphology ( J:53825 )

• at E14.5, Ia neuron projections in the dorsal root ganglion are severely reduced

• mice exhibit a 90% loss of proprioreceptive neurons in the dorsal root ganglion

small L4 dorsal root ganglion ( J:53825 )

• at E14.5, L4 is smaller than in wild-type mice due to a 12.1-fold increase in apoptosis

behavior/neurological

dystonia ( J:53825 )

• mice exhibit dystonia during the first two weeks after birth but not during adulthood

ataxia ( J:53825 )

• mice exhibit ataxia during the first two weeks after birth but not during adulthood

abnormal gait ( J:53825 )

• mice exhibit an unstable gait and mild posturing of extremities during the first two weeks after birth but not during adulthood

muscle

dystonia ( J:53825 )

• mice exhibit dystonia during the first two weeks after birth but not during adulthood

abnormal muscle morphology ( J:53825 )

• muscles exhibit fewer myelinated fibers than in wild-type mice (26+/-2 compared to 76+/-2 in wild-type mice)

decreased muscle spindle number ( J:53825 )

• spindle density in the soleus, the medial gastrocnemius, plantaris and lumbrical muscles is reduced 50% compared to in wild-type mice

absent muscle spindles ( J:53825 )

• 31% of soleus muscles are devoid of muscle spindles

muscle spasm ( J:53825 )

• mice that survive longer than 3 weeks exhibit flexor spasms and uplifting of hindlimbs during weeks 3 to 4

growth/size/body

decreased body weight ( J:53825 )

• mice weight 10% to 30% less than wild-type mice

Genotype
MGI:3770678

cx8

• Allelic Composition: Ngfr^tm1Jae/Ngfr^tm1Jae; Ntf3^tm1Jae/Ntf3^tm1Jae
• Genetic Background: involves: 129S4/SvJae * BALB/c

mortality/aging

neonatal lethality, complete penetrance ( J:53825 )

• mice die at birth

Genotype
MGI:3052162

cx9

• Allelic Composition: Ntf3^tm1Jae/Ntf3^tm1Jae; Tg(Myog-Ntf3)5160Wds/0
• Genetic Background: involves: C57BL/6 * CBA * CF-1

mortality/aging

postnatal lethality, complete penetrance ( J:43444 )

• mutants die soon after birth presumably from cardiac defects similar to Ntf3^tm1Jae homozygotes

nervous system

abnormal muscle spindle morphology ( J:43444 )

• abnormal clusters of spindle bundles are seen

abnormal dorsal root ganglion morphology ( J:43444 )

• a 54% decrease compared to wild-type in the overall number of dorsal root ganglia neurons at L4 is seen in newborn mice this represents a partial recovery from the 63% deficiency seen in Ntf3^tm1Jae homozygotes

abnormal proprioceptive neuron morphology ( J:43444 )

• the number of proprioceptive neurons and spindle bundles are decreased in most skeletal muscles however this decrease is not as great as in Ntf3^tm1Jae homozygotes

• this rescue is muscle specific with no recovery in the soleus muscles and almost complete recovery in the medial gastrocnemius

muscle

abnormal muscle spindle morphology ( J:43444 )

• abnormal clusters of spindle bundles are seen