All Phenotypes Etv1<tm1Tmj> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Etv1^tm1Tmj/Etv1^tm1Tmj	involves: 129S1/Sv	MGI:3621015
hm2	Etv1^tm1Tmj/Etv1^tm1Tmj	involves: 129S1/Sv * C57BL/6J	MGI:3621013
ht3	Etv1^tm1Tmj/Etv1⁺	involves: 129S1/Sv	MGI:3621017
cn4	Etv1^tm1Tmj/Etv1^tm1Tmj Ntf3^tm2Jae/Ntf3^tm2Jae Tg(PLAT-cre)116Sdu/0	involves: 129S1/Sv	MGI:5506528
cx5	Etv1^tm1Tmj/Etv1^tm2Tmj Tg(EGR3-WGA)1Tmj/0	involves: 129S1/Sv	MGI:5506525
cx6	Etv1^tm1Tmj/Etv1^tm1Tmj Etv4^tm1Arbr/Etv4⁺	involves: 129S1/Sv	MGI:5506526
cx7	Etv1^tm1Tmj/Etv1^tm1Tmj Ntf3^tm1Lfr/Ntf3^tm1Lfr	involves: 129S1/Sv * 129S2/SvPas	MGI:3621022

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

nervous system

abnormal innervation pattern to muscle ( J:75311 )

• myelinated nerve fibers in the soleus and medial gastrocnemius are decreased by 12-13% compared to wild-type

abnormal somatic sensory system morphology ( J:107207 )

• the interosseous nerve is present at E16.5 but absent after birth

abnormal golgi tendon organ morphology ( J:75311 )

• golgi tendon organ numbers are decreased in the soleus (by 77%), medial gastrocnemius (by 64%), and extensor hallucis longus (by 26%)

absent golgi tendon organ ( J:75311 )

• in some cases the soleus lacks golgi tendon organs

abnormal muscle spindle morphology ( J:75311 )

• spindle density is increased in dorsal and to a lesser extent in ventral crural muscles

• at P20-22, average spindle number is increased by 57% in the soleus, by 80% in the medial gastrocnemius, and by 26% in the extensor hallucis longus

• however, spindle numbers are decreased in proximal hindlimb muscles with dorsal muscles more severely affected than ventral muscles resulting in an overall decrease in spindle density in the hindlimbs

• about 69% of spindles contain fewer than the normal 4 intrafusal fibers and these spindles also have a shorter capsule and smaller periaxial fluid space

• the missing intrafusal fibers are generally the later forming chain fibers

abnormal sensory neuron innervation pattern ( J:75311 )

• the proprioceptive branch of the soleus muscle nerve has 12% fewer myelinated fibers, innervates more spindles and fewer golgi tendon organs, and contains more group Ia afferents and fewer group Ib afferents

abnormal pacinian corpuscle morphology ( J:107207 )

• absent from the crus at E16.5 - E18.5 and P0 - P1

abnormal dorsal root ganglion morphology ( J:75311 , J:107207 )

• fewer dorsal root ganglion neurons and axonal projections express calbindin 2 (J:75311)

• about a 14% and 23% decrease in neuron numbers are seen in the L4 and L3 dorsal root ganglia, respectively (J:75311)

• a 25% and 32% decrease in myelinated nerve fiber numbers are seen in the L4 and L3 dorsal root ganglia, respectively (J:75311)

• only 0.2% of 9400 neuron profiles show calbindin 2 expression compared to 5.6% of 700 neuron profiles in wild-type mice (J:107207)

abnormal ventral spinal root morphology ( J:75311 )

• both L3 and L4 ventral spinal roots contain fewer small caliber motor axons (19% of the myelinated axon population) compared to wild-type mice (38% of the myelinated axon population)

muscle

abnormal golgi tendon organ morphology ( J:75311 )

• golgi tendon organ numbers are decreased in the soleus (by 77%), medial gastrocnemius (by 64%), and extensor hallucis longus (by 26%)

absent golgi tendon organ ( J:75311 )

• in some cases the soleus lacks golgi tendon organs

abnormal muscle spindle morphology ( J:75311 )

• spindle density is increased in dorsal and to a lesser extent in ventral crural muscles

• at P20-22, average spindle number is increased by 57% in the soleus, by 80% in the medial gastrocnemius, and by 26% in the extensor hallucis longus

• about 69% of spindles contain fewer than the normal 4 intrafusal fibers and these spindles also have a shorter capsule and smaller periaxial fluid space

• the missing intrafusal fibers are generally the later forming chain fibers

Allelic Composition	Etv1^tm1Tmj/Etv1^tm1Tmj
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv1^tm1Tmj mutation (0 available); any Etv1 mutation (44 available)

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

mortality/aging

premature death ( J:78232 )

• die between 3 and 5 weeks of age

nervous system

abnormal muscle spindle morphology ( J:78232 )

• between E18 and P5 impaired muscle spindle differentiation is seen with loss of differentiated intrafusal fibers

• loss of differentiated intrafusal fibers varies between muscles with nearly complete loss in the gluteus, gracilis, biceps femoris, and semitendinosus muscles and partial loss in the pectoralis, adductor, and rectus femoris

• however, no defects in Golgi tendon organs are detected

abnormal sensory neuron innervation pattern ( J:78232 )

• fewer than 1% of the normal number of proprioceptive group 1a afferents are found in the ventral termination zone in the dorsal spinal cord; however densities in the dorsal and intermediate zones are normal

• a similar defect is seen at the forelimb and thoracic levels

• the number of PV+ axons within the muscle mass is reduced

impaired ability to fire action potentials ( J:78232 )

• after stimulation of the dorsal root ganglia monosynaptic responses are about 10 less than in wild-type and fail to evoke action potentials in motor neurons; however long-latency polysynaptic responses are similar to wild-type

• after cutaneous nerve stimulation the amplitude of monosynaptic responses is reduced between 4- and 40-fold

abnormal nerve conduction ( J:78232 )

• at P6 to P8, the latency of the fast component of compound sensory action potentials in the dorsal root ganglia is increased by 1 to 2 ms with a few axons showing even slower conduction velocities

behavior/neurological

ataxia ( J:78232 )

• limb ataxia

impaired limb coordination ( J:78232 )

• abnormal flexor-extensor posturing of the limbs

muscle

abnormal muscle spindle morphology ( J:78232 )

• between E18 and P5 impaired muscle spindle differentiation is seen with loss of differentiated intrafusal fibers

• however, no defects in Golgi tendon organs are detected

Allelic Composition	Etv1^tm1Tmj/Etv1⁺
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv1^tm1Tmj mutation (0 available); any Etv1 mutation (44 available)

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

nervous system

abnormal golgi tendon organ morphology ( J:75311 )

• distal hindlimb muscles show a 20-25% decrease in golgi tendon organ numbers

increased muscle spindle number ( J:75311 )

• distal hindlimb muscles show a 20-30% increase in spindle numbers

decreased pacinian corpuscle number ( J:107207 )

• 15-17% decrease in pacinian corpuscle numbers in the crus at P0-P1

small pacinian corpuscles ( J:107207 )

• remaining corpuscles are smaller than wild-type but structurally similar

abnormal dorsal root ganglion morphology ( J:75311 )

• about a 11% and 13% decrease in neuron numbers are seen in the L4 and L3 dorsal root ganglia, respectively

growth/size/body

decreased body size ( J:75311 )

• slightly smaller through the first 3 weeks of life

muscle

abnormal golgi tendon organ morphology ( J:75311 )

• distal hindlimb muscles show a 20-25% decrease in golgi tendon organ numbers

increased muscle spindle number ( J:75311 )

• distal hindlimb muscles show a 20-30% increase in spindle numbers

Allelic Composition	Etv1^tm1Tmj/Etv1^tm1Tmj Ntf3^tm2Jae/Ntf3^tm2Jae Tg(PLAT-cre)116Sdu/0
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv1^tm1Tmj mutation (0 available); any Etv1 mutation (44 available)
Ntf3^tm2Jae mutation (1 available); any Ntf3 mutation (24 available)
Tg(PLAT-cre)116Sdu mutation (0 available)

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

nervous system

decreased sensory neuron number ( J:197913 )

• no further reduction in proprioceptive sensory neuron survival is observed (with deletion of Ntf3); numbers in L5 DRG are reduced similarly to that observed in Etv1-deficient, Ntf3-sufficient animals

Allelic Composition	Etv1^tm1Tmj/Etv1^tm2Tmj Tg(EGR3-WGA)1Tmj/0
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv1^tm1Tmj mutation (0 available); any Etv1 mutation (44 available)
Etv1^tm2Tmj mutation (0 available); any Etv1 mutation (44 available)
Tg(EGR3-WGA)1Tmj mutation (0 available)

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

muscle

decreased muscle spindle number ( J:197913 )

• mutants exhibit loss of about 65% of WGA-positive muscle spindles relative to controls

nervous system

decreased muscle spindle number ( J:197913 )

• mutants exhibit loss of about 65% of WGA-positive muscle spindles relative to controls

decreased sensory neuron number ( J:197913 )

• number of wheat germ agglutinin-positive (WGA) proprioceptive sensory neurons in L2 and L5 DRG is significantly reduced (to 20% of control)

Allelic Composition	Etv1^tm1Tmj/Etv1^tm1Tmj Etv4^tm1Arbr/Etv4⁺
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv1^tm1Tmj mutation (0 available); any Etv1 mutation (44 available)
Etv4^tm1Arbr mutation (0 available); any Etv4 mutation (41 available)

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

nervous system

decreased muscle spindle number ( J:197913 )

• hypaxial (body wall and intercostal) muscles lack Etv4-positive muscle spindles while axial muscles have 14% of muscle spindles relative to control; hindlimb muscles retain about 50% of Etv4-positive muscle spindles

decreased sensory neuron number ( J:197913 )

• hypaxial (body wall and intercostal) muscles lack vGlut1 (Slc17a7)-positive spindle-associated sensory endings (SSEs) at P0-3 while axial muscles retain about 3%; hindlimb muscles retain about 50% of Slc17a7-positive SSEs

abnormal proprioceptive neuron morphology ( J:197913 )

• significant muscle to muscle variation in proprioceptive sensory neuron innervation is observed

muscle

decreased muscle spindle number ( J:197913 )

Allelic Composition	Etv1^tm1Tmj/Etv1^tm1Tmj Ntf3^tm1Lfr/Ntf3^tm1Lfr
Genetic Background	involves: 129S1/Sv * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv1^tm1Tmj mutation (0 available); any Etv1 mutation (44 available)
Ntf3^tm1Lfr mutation (1 available); any Ntf3 mutation (24 available)

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

nervous system

absent golgi tendon organ ( J:75311 )

• absent from proximal and distal muscles in newborn double homozygotes

absent muscle spindles ( J:75311 )

• spindles are absent from proximal and distal muscles in newborn double homozygotes

muscle

absent golgi tendon organ ( J:75311 )

• absent from proximal and distal muscles in newborn double homozygotes

absent muscle spindles ( J:75311 )

• spindles are absent from proximal and distal muscles in newborn double homozygotes

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