Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1atm1Tpe mutation
(0 available);
any
Lmx1a mutation
(20 available)
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Slc6a3tm1(cre)Lrsn mutation
(1 available);
any
Slc6a3 mutation
(66 available)
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behavior/neurological
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• novel object recognition test indicates impaired short-term memory formation in adult and aged mice
• however, no differences are seen in anxiety or depression-like tests
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• impaired motor coordination in the pole test at 6 months of age and in the beam traversal and pole test at 18 months of age
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• in the open field, mice show a modest increase in locomotor activity at 18, but not 6, months of age
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nervous system
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• midbrain dopamine neuron innervation is impaired
• treatment with rapamycin almost completely normalizes the reduced striatal TH innervation
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• 3 month old mice exhibit abnormal nerve terminals in the striatum, with a 50% reduction in the density of TH-positive nerve terminals and abnormally large nerve terminals that reach up to 22 um in diameter frequently throughout the dorsal and ventral striatum
• enlarged presynaptic boutons show fewer synaptic vesicles at active zones and are filled with vacuoles and multilamellar autophagic-lysosomal vesicles that sometimes contain mitochondria
• 23% lower occurrence of synaptic active zones
• treatment with rapamycin alleviates the occurrence of abnormally large TH+ boutons in the striatum
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• synaptic morphology is disrupted in presynaptic midbrain dopamine neuron terminals
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• enlarged presynaptic boutons show fewer synaptic vesicles at active zones
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• progressive loss of TH-positive neurons in the ventral midbrain, with degenerating TH+ neurons frequently seen in young mice; reduction is seen within both the dorsal and ventral striatum
• dopamine transporter (DAT) expression is reduced, showing a modest reduction in young mice but a significant reduction in aged mice, indicating dopaminergic neuron degeneration
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• mice exhibit enhanced induced LTP of Shaffer collateral-CA1 pyramidal cell synapses
• however, basal synaptic transmission is normal
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taste/olfaction
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• social olfaction is impaired in adult (6 months) and aged (18 months) mice
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cellular
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• accumulation of lysosomes in axonal terminals of midbrain dopamine neurons
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• accumulation of autophagosomes in axonal terminals of midbrain dopamine neurons
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• the number of lipofuscin granules are reduced in midbrain dopamine neurons
• accumulation of electron-dense protein aggregates in midbrain dopamine neuron cell bodies
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homeostasis/metabolism
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation
(0 available);
any
Lmx1b mutation
(16 available)
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Sox9tm3(cre)Crm mutation
(1 available);
any
Sox9 mutation
(32 available)
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skeleton
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N |
• mice exhibit normal dorsal tendons of the metacarpophalangeal joint
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• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit abnormal tips of the metacarpals
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limbs/digits/tail
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• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit abnormal tips of the metacarpals
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation
(0 available);
any
Lmx1b mutation
(16 available)
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Tg(Lmx1a-cre)1Kjmi mutation
(0 available)
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nervous system
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N |
• rhombomere 1 roofplate is normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1adr-J mutation
(1 available);
any
Lmx1a mutation
(20 available)
Lmx1btm1Rjo mutation
(0 available);
any
Lmx1b mutation
(16 available)
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Tg(Lmx1a-cre)1Kjmi mutation
(0 available)
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nervous system
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• fourth ventricle roof plate size is dramatically smaller relative to wild-type or Lmx1a-null mice at E10.5
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• P20 mice show severe cerebellar defects
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• at E12.5, reduced proliferation is observed in the cerebellar anlage
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• cerebellum is reduced in size
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1atm1Tpe mutation
(0 available);
any
Lmx1a mutation
(20 available)
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Tg(Slc6a3-cre/ERT2)1Span mutation
(0 available)
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nervous system
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• abnormally enlarged nerve terminals are seen in mice 4 weeks after treatment with tamoxifen at 4 weeks of age, showing fewer synaptic vesicles at active zones and an increase in the number of autophagic-lysosomal vesicles
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• striatal expression of dopamine transporter (DAT) is reduced in the ventral striatum 18 months after tamoxifen treatment indicating dopaminergic neuron loss, however, no loss of TH or DAT expression in the dorsal striatum and no loss of TH+ cells are seen at this time point
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homeostasis/metabolism
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation
(2 available);
any
H2az2 mutation
(26 available)
Lmx1btm1Rjo mutation
(0 available);
any
Lmx1b mutation
(16 available)
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
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nervous system
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• severe reduction in size at P0
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• severe reduction in size at P0
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation
(0 available);
any
Lmx1b mutation
(16 available)
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Tg(Prrx1-cre)1Cjt mutation
(2 available)
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skeleton
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• mice exhibit dorsal-to-ventral transformation of skeletal tissues compared with wild-type mice
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• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit dorsal sesamoid bones and dorsal cartilagenious protrusion of the metacarpal unlike in wild-type mice
• mice exhibit reduced tips of the metacarpals compared with wild-type mice
• the scaphoid, falciform, and pisiform are duplicated in a dorsal position unlike in wild-type mice
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• mice exhibit dorsal-to-ventral transformation of tendon tissues compared with wild-type mice
• the dorsal tendon is round unlike in wild-type mice
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• the dorsal flexure at the ankle is absent
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muscle
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• mice exhibit dorsal-to-ventral transformation of tendon tissues compared with wild-type mice
• the dorsal tendon is round unlike in wild-type mice
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limbs/digits/tail
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• mice exhibit less hair on the dorsal skin of the paw that resembles a footpad unlike in wild-type mice
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• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit dorsal sesamoid bones and dorsal cartilagenious protrusion of the metacarpal unlike in wild-type mice
• mice exhibit reduced tips of the metacarpals compared with wild-type mice
• the scaphoid, falciform, and pisiform are duplicated in a dorsal position unlike in wild-type mice
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Tg(Fev-cre)1Esd mutation
(1 available)
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behavior/neurological
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N |
• no apparent motor capability abnormalities
(J:116706)
• mice exhibit normal innate olfactory attractive or avoidance response, odor discrimination during habituation and dishabituation, and olfaction of general odors and pheromones
(J:170988)
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• freezing behavior between electrical foot shocks significantly increases during the fourth or fifth interval
• when placed back into the environment after 30 minutes of rest, the mice freeze for almost as twice as long as controls
• the enhanced fear memory persisted even after 10 days when wild-type mice have largely ceased the behavior
• mice are not more prone to exhibit a freezing behavior when introduced to a novel environment and have normal nociceptive responses
• intracerebroventricular administration of serotonin restores normal freezing behaviors
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• after completing a 9-day training period in a morris water maze, the mice spend less time in the target quadrant, take a longer time to cross the platform location, and cross the target location less frequently compared to controls
• the deficiences are more pronounced 10 days after training compared to 1 day after training
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• mice spend at least 20% more time in the open arm of an elevated-plus maze test than wild-type mice indicating reduced anxiety
• mice also have about half the latency time between novelty presentation and feeding than exhibited by control mice
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• male mice exhibit increased mounting of target male mice compared with control mice
• male mice spend less time sniffing the female genital odor and more time sniffing the male genital odor compared with control mice
• male mice spend less time above male bedding and less time above female bedding compared with control mice
• male mice fail to exhibit an increase in mounting estrous female unlike wild-type mice
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• male mice exhibit increased ultrasonic vocalization towards males compared with control mice
• however, male mice vocalization towards female are normal
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nervous system
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N |
• expression levels of dopamine, dihydroxyphenyacetic acid, and norepinephrine in the brain and spinal cord are similar to control mice
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• cytoarchitecture of the B1-B9 raphe nuclei is abnormal with the B6 nuclei (caudal nucleus raphe dorsalis) being absent
(J:116706)
• serotonin-producing neurons are absent in the raphe magnus nucleus
(J:139720)
• the distribution and density of tyrosine hydroxylase-positive neurons were unchanged
(J:139720)
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• at E12.5 serotonin staining is reduced and by E14.5 very few serotonin positive neurons are present in the brain
• in adult mice, only rare serotonin positive cells are found in raphe nuclei and no ascending or descending fibers are found in the rostral brain or spinal cord
• loss of serotonin cells appears to occur during postnatal stages
• however, no ectopic serotonin neurons are found and peripheral serotonin expression is similar to wild-type mice
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• foot shock impairs subsequent hippocampal CA1 LTP responses in wild-type mice but not these mice as measured by fEPSP amplitude
• serotonin administration to hippocampal slices restores LTP responses
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• foot shock impairs subsequent hippocampal CA1 LTD responses in wild-type mice but not these mice as measured by fEPSP amplitude
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• adult mice lack essentially all central serotonin-producing neurons
• levels of serotonin are 10-fold lower than that of wild-type mice in the hippocampus, cortex, and striatum
• the levels of cells producing serotonin in the brain is 1% that of wild-type
the levels of cells producing serotonin in the brain is 1% that of wild-type
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taste/olfaction
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N |
• mice exhibit normal innate olfactory attractive or avoidance response, odor discrimination during habituation and dishabituation, and olfaction of general odors and pheromones
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Zfc mutation
(0 available);
any
Lmx1b mutation
(16 available)
Tg(Fev-cre/ERT2)#Yqd mutation
(0 available)
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Analysis Tools