Phenotypes associated with this allele

• Allele Symbol: Etv1^tm2Tmj
• Allele Name: targeted mutation 2, Thomas M Jessell
• Allele ID: MGI:2384496
• Summary: 10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Etv1^tm2Tmj/Etv1^tm2Tmj	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6	MGI:3716102
hm2	Etv1^tm2Tmj/Etv1^tm2Tmj	involves: 129S1/Sv	MGI:3621018
hm3	Etv1^tm2Tmj/Etv1^tm2Tmj	involves: 129S1/Sv * C57BL/6J	MGI:3621014
ht4	Etv1^tm2Tmj/Etv1^+	involves: 129S1/Sv	MGI:3621019
ht5	Etv1^tm1(Ewsr1/Etv4)Arbr/Etv1^tm2Tmj	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6	MGI:3716101
cx6	Etv1^tm2Tmj/Etv1^+ Etv4^tm1Arbr/Etv4^+	involves: 129S1/Sv	MGI:3621024
cx7	Etv1^tm1Tmj/Etv1^tm2Tmj Tg(EGR3-WGA)1Tmj/0	involves: 129S1/Sv	MGI:5506525
cx8	Etv1^tm2Tmj/Etv1^tm2Tmj Ntf3^tm1Lfr/Ntf3^tm1Lfr	involves: 129S1/Sv * 129S2/SvPas	MGI:3621020
cx9	Bax^tm1Sjk/Bax^tm1Sjk Etv1^tm2Tmj/Etv1^tm2Tmj	involves: 129S1/Sv * 129X1/SvJ	MGI:5506523
cx10	Etv1^tm2Tmj/Etv1^tm2Tmj Tg(Ntrk3-EGFP)BM45Gsat/0	involves: 129S1/Sv * FVB/N	MGI:5506522

Genotype
MGI:3716102

hm1

• Allelic Composition: Etv1^tm2Tmj/Etv1^tm2Tmj
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

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

nervous system

abnormal sensory neuron innervation pattern ( J:100886 )

• the number of of proprioceptive afferent cell bodies within the dorsal root ganglia of L1 to L5 and proprioceptive afferent cell body projections are reduced

Genotype
MGI:3621018

hm2

• Allelic Composition: Etv1^tm2Tmj/Etv1^tm2Tmj
• Genetic Background: involves: 129S1/Sv

nervous system

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 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 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 )

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

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)

• absent from the crus at P0-P1 (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 )

• 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

• 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

Genotype
MGI:3621014

hm3

• Allelic Composition: Etv1^tm2Tmj/Etv1^tm2Tmj
• Genetic Background: involves: 129S1/Sv * C57BL/6J

mortality/aging

premature death ( J:78232 )

• die between 3 and 5 weeks of age

behavior/neurological

ataxia ( J:78232 )

• limb ataxia

impaired limb coordination ( J:78232 )

• abnormal flexor-extensor posturing of the limbs

Genotype
MGI:3621019

ht4

• Allelic Composition: Etv1^tm2Tmj/Etv1⁺
• Genetic Background: involves: 129S1/Sv

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

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

Genotype
MGI:3716101

ht5

• Allelic Composition: Etv1^{tm1(Ewsr1/Etv4)Arbr}/Etv1^tm2Tmj
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

nervous system

nervous system phenotype ( J:100886 )

N • mice are indistinguishable from wild-type in the number of proprioceptive afferent cell bodies within the dorsal root ganglia of L1 to L5

N • proprioceptive afferent cell body projections are also normal

Genotype
MGI:3621024

cx6

• Allelic Composition: Etv1^tm2Tmj/Etv1⁺; Etv4^tm1Arbr/Etv4⁺
• Genetic Background: involves: 129S1/Sv

nervous system

abnormal somatic sensory system morphology ( J:107207 )

• the interosseous nerve is present but thinner than in wild-type mice

decreased pacinian corpuscle number ( J:107207 )

• 20% 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

Genotype
MGI:5506525

cx7

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

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)

Genotype
MGI:3621020

cx8

• Allelic Composition: Etv1^tm2Tmj/Etv1^tm2Tmj; Ntf3^tm1Lfr/Ntf3^tm1Lfr
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas

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

Genotype
MGI:5506523

cx9

• Allelic Composition: Bax^tm1Sjk/Bax^tm1Sjk; Etv1^tm2Tmj/Etv1^tm2Tmj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

nervous system

increased sensory neuron number ( J:197913 )

• number of proprioceptive sensory neurons (pSNs) is increased by 2-fold compared to wild-type controls

abnormal proprioceptive neuron morphology ( J:197913 )

• about 30% of pSNs in the rostral lumbar DRG have cell body diameters in the wild-type range, with 70% having smaller somatic diameters

Genotype
MGI:5506522

cx10

• Allelic Composition: Etv1^tm2Tmj/Etv1^tm2Tmj; Tg(Ntrk3-EGFP)BM45Gsat/0
• Genetic Background: involves: 129S1/Sv * FVB/N

cellular

abnormal axon guidance ( J:197913 )

• in P5-6 mutants, almost complete depletion in the laterally-targeted pSN axon fascicle at T9, L2 and L5 spinal cord levels; medially-oriented pSN axons are greatly reduced in number at all segmental levels compared to controls

nervous system

abnormal axon guidance ( J:197913 )

• in P5-6 mutants, almost complete depletion in the laterally-targeted pSN axon fascicle at T9, L2 and L5 spinal cord levels; medially-oriented pSN axons are greatly reduced in number at all segmental levels compared to controls

decreased sensory neuron number ( J:197913 )

• number of proprioceptive sensory neurons (pSNs) detected in DRGs at level of L2 are decreased by 30% at P0 and by P10, there is 80% loss; at L5 levels, pSN number is decreased by 40% at P0 and P10