Analysis Tools|
Allele Symbol Allele Name Allele ID |
Pvalb+ wild type MGI:2431770 |
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| Summary |
16 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes are viable and fertile with no gross physical or behavioral abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are viable, fertile, normal in size and display no overt physical or behavioral abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• higher systolic and diastolic blood pressure
• hypertension is especially pronounced during the active, awake period
• hydrochlorothiazide (HCTZ) treatment normalizes blood pressure
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• dietary salt loading exacerbates hypertension
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• mice exhibit lower rates of urinary potassium excretion and are unable to develop a transtubular potassium gradient, indicating impaired potassium secretion from the aldosterone-sensitive distal nephron
• HCTZ restores urinary potassium excretion and transtubular potassium gradient
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• aldosterone-sensitive distal nephron mass is reduced
• length and area of cortical distal nephron segment DCT1 is increased with a commensurate decrease in the length and area of the CNT segment
• HCTZ treatment reverses the structural nephron remodeling
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• salt-sensitive hypertension with low rein indicates aberrant gain in renal sodium absorption
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• reduction in BUN levels
• HCTZ treatment corrects BUN levels
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• mice exhibit high plasma potassium levels
• a potassium-rich diet exacerbates hyperkalemia
• HCTZ corrects the hyperkalemia
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• mice exhibit lower rates of urinary potassium excretion and are unable to develop a transtubular potassium gradient, indicating impaired potassium secretion from the aldosterone-sensitive distal nephron
• HCTZ restores urinary potassium excretion and transtubular potassium gradient
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• plasma renin activity is decreased
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| pseudohypoaldosteronism | DOID:4479 | J:287773 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• neither cued nor contextual fear conditioning are different from controls
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• animals exhibit significantly more locomoter activity than controls in open field test
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• significantly increased compared to controls (EPSC amplitude 322% vs 157%)
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• animals display deficit in PPI; reductions in PPI are more pronounced at lower prepulse sound levels than in controls
• responses are similar to Erbb4-/- mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal peripheral axon myelination and Aalphabeta-fiber electrical threshold, amplitude, and conduction velocity
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• absent Kv1 channels complex accumulation at the juxtaparanodal membrane in neurons
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• application of 4-AP does not further prolong the refractory period in sensory root neurons unlike in wild-type mice
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• after 6 to 8 weeks
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mutants show normal behavior in the open field test, with no differences in total distance traveled, total time mobile, and total vertical rearing activity, normal behavior on the rotarod, and normal behavior in the tail suspension test, indicating that depression-related behavior is not affected
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• mutants show memory deficits in the novel object recognition test, with mutants showing no preference for novel object 2 when it replaced the familiar object 1 after 24 hours, indicating impaired long-term recognition memory
• however, short term memory is normal, with mutants interacting with a novel object similarly to controls after 1 hour
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• mutants exhibit enhanced spatial memory in the Morris water maze; within 4 training days, mutants take less time and swim shorter distance to reach the platform, and show a higher percentage of successful rate of finding the hidden-platform within 60 seconds
• mutants show decreased travel distance, longer duration, and greater travel frequency into the platform quadrant after the platform is removed
• in a three-zone assessment with concentric circles of different diameters surrounding the platform, mutants show better navigation to the target, have shorter latencies to reach the smallest target zone, spend longer time, and enter more in the target zones, indicating that mutants can memorize the position of the platform in relation to spatial cues with higher accuracy
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• in the marble burying test, mutants take more time to start to bury the marbles, however the final number of buried marbles is not different from controls, indicating that mutants dig more frequently in a shorter active period
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• in the open field test, mice have less center distance traveled with similar velocities, and show less center entry and a longer latency to enter the center region, indicating increased anxiety
• in the 5-min open field test, mice spend less time in the center region
• in the elevated plus maze, mutants enter the closed arms much earlier than controls and take longer to enter the open arms, they prefer the closed arms more often than the open arms, they enter the closed arms more frequently than controls, and the distance they travel in the open arm is much less than in controls
• mutants are reluctant to enter the distal half of the open arms of the elevated plus maze
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• in the contextual fear conditioning freezer test, mutants do not decrease the percentage of freezing at the third day of extinction tests, indicating the memory extinction is impaired
• however, no differences were seen in the contextual fear conditioning test during the first 2 days, suggesting intact fear memory
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• mutants fail to show social novelty behavior in the social interaction test session when an unfamiliar mouse is introduced in the empty chamber
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• mutants spend more time grooming than controls
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• mutants exhibit increased head-dipping behavior, especially at the center region of the plus maze apparatus, indicating compulsive-like behavior
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• mutants exhibit increased head-dipping behavior, especially at the center region of the plus maze apparatus, indicating compulsive-like behavior
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• mutants perform worse on nest building test than controls
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• neuronal activation is reduced in the cortex, but not in the amygdala or hippocampus regions
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:236989 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit decreased activity in the open field
• however, performance on the rotarod is normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 50% mortality by 29-35 weeks of age
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• mice develop progressive cued memory deficits, with the difference in freezing response to a conditioned tone becoming significantly different at 15 weeks of age
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• mice show a diminished acoustic startle response
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• mice develop progressive ataxia that is apparent at 6 weeks and worsens by 20 weeks
• however, mice do not exhibit seizures or stereotypical behaviors
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• mice exhibit reduced latency to fall in both the rotarod and dowel walk assays
• mice exhibit impaired performance of the marble-burying test, suggesting forelimb incoordination
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• mice develop widely splayed hind limbs after 10 weeks and hind limb retraction after 15 weeks of age
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• mice spend more time interacting with novel partner mice in a social behavior assay
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice subjected to monocular deprivation exhibit normal ocular dominance plasticity
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduced adult dorsal root ganglia regeneration following sciatic nerve crush injury
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• significantly fewer parvalbumin labeled cells in the anterior cingulate cortex
• reduction of the aggrecan-enriched perineuronal nets
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in the accelerated rotarod test, mice fall significantly faster than control mice (<150 sec versus >250 sec, respectively) but are able to improve their performance
• however, no significant difference in locomotor activity is noted in the open field test, despite a trend towards hyperactivity
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• in the spinal cord, dorsal root ganglia exhibit large vacuoles as well as many structures containing dense material that is parvalbumin immunoreactive
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• whole dorsal root ganglia require neurotrophin-3 for survival
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• amplitudes of evoked field potentials are reduced in CA1 slices
• the power of gamma oscillations in hippocampal subfield CA1 is reduced
• require a higher concentration of bicuculline methiodide to induce pathological activity
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• bidirectional synaptic plasticity is compromised
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• could not be elicited
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N |
• performance is similar to controls in discriminative associative learning and memory tests
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• in light/dark preference, open field and elevated plus maze tests
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 03/18/2025 MGI 6.24 |
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