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Allele Symbol Allele Name Allele ID |
Ctnnb1tm2Kem targeted mutation 2, Rolf Kemler MGI:2148567 |
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| Summary |
73 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants treated with tamoxifen and subjected to thoracic aortic constriction exhibit a reduced hypertrophic response to the pressure overload
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• mutants treated with tamoxifen and subjected to thoracic aortic constriction exhibit a reduced hypertrophic response to the pressure overload
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• females display poor nursing behavior
• 80% do not nurse at all and abandon pups
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• increased sensitivity to PTZ induced seizures
• 83% die within 60 minutes of PTZ injection compared to 58% mortality in controls
• significantly higher numbers of phase I and phase II seizures
• duration of seizures increased for phase I
• 2X as much time in seizure as controls
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• males significantly smaller than littermates
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• 83% die within 60 minutes of PTZ injection compared to 58% mortality in controls
• increased sensitivity to PTZ induced seizures
• significantly higher numbers of phase I and phase II seizures
• duration of seizures increased for phase I
• 2X as much time in seizure as controls
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• as a result of missing hippocampal structures
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• lack hippocampal commissure
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• CA1, CA2, CA3 all not detected
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• impaired cortical development, failure of lobes to extend caudally
• adult brain similar in appearance to perinatal brain
• thinner cortex
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at 7 days of age, mice show absence of pigmentation in the hair follicle bulbs, unlike wild-type controls
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• spectrophotometry revealed absence of melanin in hairs, unlike in wild-type controls
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• mice exhibit white ears, similar to their coat pigmentation
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• mice exhibit white tails, similar to their coat pigmentation
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• mice exhibit a white coat color, unlike the black coat color of wild-type controls
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• at 7 days of age, mice show absence of pigmentation in the hair follicle bulbs, unlike wild-type controls
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• spectrophotometry revealed absence of melanin in hairs, unlike in wild-type controls
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• mice exhibit white ears, similar to their coat pigmentation
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• mice exhibit white tails, similar to their coat pigmentation
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• mice exhibit a white coat color, unlike the black coat color of wild-type controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• overall, melanoblasts exhibit a much lower level of BrdU incorporation in the epidermis (E12.5 to E14.5) and dermis (E14.5) relative to wild-type controls
• however, no differences in apoptosis, cell differentiation or fate are observed
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• in the trunk region, melanoblast number is normal at E10.5 but significantly lower than that in wild-type controls at each developmental stage from E12.5 to E15.5; this difference increases with time
• at E14.5, melanoblasts are less abundant than in mice hemizygous for the Tg(Tyr-Ctnnb1/EGFP)#Lru transgene, reflecting the differences in coat color observed after birth
• although melanoblast numbers are reduced in both the epidermis and dermis, the reduction is far greater in the epidermis than in the dermis
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• overall, melanoblasts exhibit a much lower level of BrdU incorporation in the epidermis (E12.5 to E14.5) and dermis (E14.5) relative to wild-type controls
• however, no differences in apoptosis, cell differentiation or fate are observed
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• in the trunk region, melanoblast number is normal at E10.5 but significantly lower than that in wild-type controls at each developmental stage from E12.5 to E15.5; this difference increases with time
• at E14.5, melanoblasts are less abundant than in mice hemizygous for the Tg(Tyr-Ctnnb1/EGFP)#Lru transgene, reflecting the differences in coat color observed after birth
• although melanoblast numbers are reduced in both the epidermis and dermis, the reduction is far greater in the epidermis than in the dermis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E12.5
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• at E12.5
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• rudimentary at E12.5
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• absent at E10.5
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• absence of midbrain structures at E10.5
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• absence of hindbrain structures at E10.5
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• rudimentary at E12.5
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• at E12.5
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• at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• disruption of apical neural tube morphology leading to migration of cells into the neural canal
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• malformed telencephalic lobes at E12.5
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• absent at E12.5
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• at E12.5
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• disruption of apical neural tube morphology leading to migration of cells into the neural canal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• not developed at E10.5
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• absent at E10.5
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• hypoplastic and malformed
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• hypoplastic and malformed
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• differentiation of sensory neurons in the neural tube is defective
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• milder defects than in conditional mutant mice homozygous for Ctnnb1tm2Kem at E12.5
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• milder defects than in conditional mutant mice homozygous for Ctnnb1tm2Kem at E12.5
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| N |
• apical neural tube morphology is not disrupted at E12.5
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• differentiation of sensory neurons in the neural tube is defective
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• local bone and marrow tissue in doxycycline-treat mice are replaced with massively enlarged vascular structures (hemangiomas) unlike in wild-type mice
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| N |
• doxycycline-treat mice exhibit normal bone density, osteoclastic bone remodeling, and bone degradation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• suppression of bone abnormalities (malformation of the deltoid tuberosity and sternum and accumulation of cortical bone) seen in mutant mice wild-type for Ctnnb1
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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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• unilateral in some mice
• bilateral in some mice
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• unilateral in some mice
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• in some mice
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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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice only survive until E14.5
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• at E14.5, motor neuron dendrite length and primary branch number are reduced 2- to 3-fold compared with control dendrites
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice survive until E10.5 and E13.5
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| N |
• mice exhibit normal lumbar motor column neuron specification, lateral migration, and segregation
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• some motor neurons fail to migrate away from the ventricular zone unlike in control mice
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• in the spinal cord medial motor column
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• mice exhibit a 2.5-fold increase in En1+ V1 interneurons and 3-fold increase in Chx10+ V2a interneurons compared to in control mice
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• mice exhibit a 3-fold increase in Chx10+ V2a interneurons compared to in control mice
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• at E11.5, mice exhibit intermixing of medial and lateral lumbar motor column neurons unlike in control mice
• at E13.5, preganglionic column neurons are scattered in ectopic ventral position unlike in control mice
• mice exhibit disorganization of intrasegmental neuron pools compared with control mice
• however, organization of rostro-caudal neurons are normal
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• Foxp1+ neurons are less densely packed than in control mice
• however, overall neuron packing is normal
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• reduced number of neurons
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• some motor neurons fail to migrate away from the ventricular zone unlike in control mice
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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 |
| N |
• doxycycline-treated mice exhibit normal numbers of osteoblasts, bone formation and bone mineral apposition rates
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• in doxycycline-treated mice
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• doxycycline-treated bone marrow cultures exhibit reduced osteoclast precursor proliferation compared with control cultures
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• decreased bone surface in doxycycline-treated mice
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• trabecular, cortical and total in doxycycline-treated mice
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• with increased spacing in doxycycline-treated mice
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• in doxycycline-treated mice
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• in doxycycline-treated mice
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• in doxycycline-treated mice
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• in doxycycline-treated mice
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• in doxycycline-treated mice
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• doxycycline-treated bone marrow cultures exhibit reduced osteoclast precursor proliferation compared with control cultures
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• in doxycycline-treated mice
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• doxycycline-treated bone marrow cultures exhibit reduced osteoclast precursor proliferation compared with control cultures
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal bone formation and osteoblast surface/numbers
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• decreased proliferation of osteoclast precursors
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• at 6 months
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• at 6 months
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• more trabecular bone and bone surface at 6 months
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• at 6 months
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• with reduced spacing at 6 months
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• at 6 months
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• decreased proliferation of osteoclast precursors
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• decreased proliferation of osteoclast precursors
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cultured bone marrow cells contain fewer osteoclast precursors compared with control mice
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• cultured bone marrow cells contain fewer osteoclast precursors compared with control mice
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• cultured bone marrow cells contain fewer osteoclast precursors compared with control mice
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• cultured bone marrow cells contain fewer osteoclast precursors compared with control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in some mice
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• bilateral in some mice
• unilateral in some mice
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• unilateral in some mice
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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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• die before P68 with vascular complications
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• 100% of mutants develop myeloproliferative disorder at about P30
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• mutants exhibit vascular complication
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• skin lesions are not seen unlike in mutant mice lacking Gt(ROSA)26Sortm1(Ctnnb1)Kem
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• broad stripes of hair loss are seen
• loss is followed by regrowth
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• at P14; however, mice catch up with littermate controls with age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• skin lesions are not seen unlike in mutant mice lacking Gt(ROSA)26Sortm1(Ctnnb1)Kem
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• thinner but continuous coat
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• at P14; however, mice catch up with littermate controls with age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• absence of embryonic structures at E8.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E8.5 embryos have a sac-like structure composed of 2 layers where the outer layer is reminiscent of the visceral endoderm and the inner layer has characteristics of a pseudostratified epithelium
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• expression analysis indicates failure to gastrulate
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• formation of proper embryonic structures is incomplete
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E14.5 embryos consist of a head attached to internal organs including lung, liver and intestine while the urogenital system and mesoderm-derived tissues making up the body wall are highly underdeveloped or absent
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• truncated tail bud region at E9.5
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• truncated tail bud region at E9.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• develop until birth but do not survive
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| N |
• at E9.5 the length of tail buds are similar to controls
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• abnormally folded distally at E9.5
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• at E14.5
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• at E14.5
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• at E14.5
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• small gonads at E14.5
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• deformed shortened forelimb digits vertebrae at E18.5
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• at E18.5
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• at E18.5
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• at E18.5 in rare cases some rudimentary upper hindlimb bones are present
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• at E14.5
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• at E14.5
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• at E18.5
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• deformed shortened fused ribs at E18.5
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• at E18.5
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• at E18.5
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• deformed shortened fused vertebrae at E18.5
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• at E18.5
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• at E18.5
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• at E14.5
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• abnormally folded distally at E9.5
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• at E14.5
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• small gonads at E14.5
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E8.5 embryos have a sac-like structure composed of 2 layers where the outer layer is reminiscent of the visceral endoderm and the inner layer has characteristics of a pseudostratified epithelium
|
|
• expression analysis indicates failure to gastrulate
|
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• formation of proper embryonic structures is incomplete
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• absence of embryonic structures at E8.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• die within hours of birth probably because of an inability to feed
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• brain defects
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• impaired morphogenesis of craniofacial structures
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• newborn males have both male and female reproductive tracts
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• mesenchyme is less condensed
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• decrease in apoptosis in the epithelium
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutant mice are live-born but die within 24 hrs of birth
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• AER formation fails to initiate in the mutant hindlimbs whereas in the forelimbs, AER is properly initiated at 20 somites but eventually disappears in the anterior and posterior extremes by ~38 somites
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• mutant forelimbs are present but truncated at the level of the humerus or ulna
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• in newborn mutants, the humerus appears largely unaffected but shows absence of the deltoid crest
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• in mutant newborns, the proximal ulna is present to variable extents
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• all mutant pups completely lack hindlimbs
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• in newborn mutants, the humerus appears largely unaffected but shows absence of the deltoid crest
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• in mutant newborns, the proximal ulna is present to variable extents
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• in mutant hindlimbs, where an AER never forms, extensive apoptosis occurs throughout the hindlimb mesenchyme and adjacent ectoderm at the 35-42 somite stage; elevated apoptosis in the mesenchyme is more significant dorsally
• in the forelimbs, however, where the AER disappears later in development, apoptosis is restricted to the distal mesenchyme and ectoderm
• no significant reduction of cell proliferation is observed in the mutant mesenchyme or ectoderm
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• AER formation fails to initiate in the mutant hindlimbs whereas in the forelimbs, AER is properly initiated at 20 somites but eventually disappears in the anterior and posterior extremes by ~38 somites
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• newborn mutant mice fail to nurse
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• in mutant hindlimbs, where an AER never forms, extensive apoptosis occurs throughout the hindlimb mesenchyme and adjacent ectoderm at the 35-42 somite stage; elevated apoptosis in the mesenchyme is more significant dorsally
• in the forelimbs, however, where the AER disappears later in development, apoptosis is restricted to the distal mesenchyme and ectoderm
• no significant reduction of cell proliferation is observed in the mutant mesenchyme or ectoderm
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|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• endochondral bone elements all shorter
|
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• chondrocyte morphology reduced about 34%
|
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E18.5, no identifiable bone matrix is observed in long bones
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• all embryos die by E12.5 due to severe hemorrhaging within the central nervous system
|
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• in E12.5 embryos, endothelial cells and pericytes are entirely absent from the neuroepithelium
|
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• hemorrhaging is detected throughout the developing brain of E12.5 embryos
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• hemorrhaging is detected throughout the developing spine of E12.5 embryos
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• hemorrhaging and downregulation of the endothelial marker GLUT-1 suggest a defect in the blood brain barrier of developing embryos
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• hemorrhaging is detected throughout the developing brain of E12.5 embryos
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• hemorrhaging is detected throughout the developing spine of E12.5 embryos
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• hemorrhaging and downregulation of the endothelial marker GLUT-1 suggest a defect in the blood brain barrier of developing embryos
|
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit an expansion of lung endoderm progenitor cells into the stomach unlike in wild-type mice
|
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• mice lack tracheal budding
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• mice lack lung specification
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• unlike in wild-type mice, strong Caspase3 activity is detected in the enamel knot cells of the maxillary and mandibular first molar tooth germs at E14.5
• however, no increase in cell death in tooth epithelium and mesenchyme is detected
|
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• incisor development arrests at bud stage
|
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• molar development arrests at bud stage
|
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• unlike in wild-type mice, strong Caspase3 activity is detected in the enamel knot cells of the maxillary and mandibular first molar tooth germs at E14.5
• however, no increase in cell death in tooth epithelium and mesenchyme is detected
|
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• incisor development arrests at bud stage
|
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• molar development arrests at bud stage
|
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• unlike in wild-type mice, strong Caspase3 activity is detected in the enamel knot cells of the maxillary and mandibular first molar tooth germs at E14.5
• however, no increase in cell death in tooth epithelium and mesenchyme is detected
|
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• incisor development arrests at bud stage
|
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• molar development arrests at bud stage
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E13.5, joints are not as clearly organized as in wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• all skeletal elements are shortened
|
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• unfused sterna
|
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• at E18.5, mice exhibit a slight shortening of the bone collar in the long bones
• mice lack bones
|
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• mature osteoblasts fail to form
|
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• mice exhibit extra cartilage elements in the limbs
|
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• from the diaphyseal perichondrium into the marrow cavity
|
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• mice lack joints at multiple locations including the knees
|
|
• except for the scapula and ileum
|
|
• mature osteoblasts fail to form
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in the spinal cord medial motor column
|
|
• reduced number of neurons
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• embryos die between E12.5 and birth
|
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• about 33% of mutants have hypoplastic/dysplastic kidneys with a few disorganized glomeruli
|
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• most kidneys show some degree of hypoplasia
|
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• at E18.5 about 66.5% of mutants display kidney fusion at the midline
|
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• 100% of mutants display embryonic tumor affecting kidney, gut, heart, and lungs, which appears to arise from multiple mesenchymal tissues
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• a cone-shaped tubercle structure is discernable unlike in urethral epithelium knock-out of beta-catenin
|
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• mice exhibit failed cloaca septation
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• markers for somatropes, thymotropes, and lactotropes are absent in E17.5-P0 mutant pituitary glands; gonadotropes are reduced in number and cells of corticotrope/melanotrope lineage are increased
|
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• in early conditional knockout for Ctnnb1, at E17.5-P0, anterior pituitary gland is smaller than wild-type and displays caudal expansion of the lumen
|
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• markers for somatropes, thymotropes, and lactotropes are absent in E17.5-P0 mutant pituitary glands; gonadotropes are reduced in number and cells of corticotrope/melanotrope lineage are increased
|
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• in early conditional knockout for Ctnnb1, at E17.5-P0, anterior pituitary gland is smaller than wild-type and displays caudal expansion of the lumen
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• severely truncated at E8.5
|
|
• at E8.5, somites are disorganized
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• with tamoxifen administration at E6.5, E8.5 embryos phenocopy the caudal body truncation seen with constitutive T-cre mediated inactivation
|
|
• with tamoxifen administration at E8.5, E10.5 embryos show defects in depletion of pre-somitic mesoderm (PSM) and segmentation defects, similar to embryos at E8.5
|
|
• with tamoxifen administration at E6.5 or E8.5, E8.5 and E10.5 embryos show disruption of somite patterning
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants survive until birth
|
|
• all bones are present, but with minor defects
|
|
• bones are connected by calcified tissues to form a trabecular basal plate, in contrast to being separated by cartilage as in wild-type embryos
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• ossifying center of the hyoid bone is missing at E18.5
|
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• only a fragment of the zygomatic process of the maxilla is found at E18.5
|
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• frontonasal prominence is narrowed, producing a protuberance with a beak-like appearance instead of a normal muzzle
|
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• hypoplasia of the lateral nasal prominence
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• the mandibular prominences fuse at the midline, but are severely underdeveloped at E11.5 and 12.5
|
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• hypoplasia of the medial nasal prominence
|
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• underdeveloped in mutants, consistent with hypoplasia of the medial and lateral nasal prominences
|
|
• by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of E9.5 embryos
|
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• part of the palatal processes of the maxilla are present in E18.5 embryos
|
|
• all embryos display hypoplasia of the facial prominences
• at E9.0 facial prominences are comparable to wild-type; shortly after, facial prominences fail to grow and by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of embryos at E9.5
• the groove overlying the lamina terminalis of forebrain which normally disappears around E10.5 is still present at E11.5
• increased cell death is observed at E10.5 in the developing facial region compared to controls
|
|
• all bones are present, but with minor defects
|
|
• bones are connected by calcified tissues to form a trabecular basal plate, in contrast to being separated by cartilage as in wild-type embryos
|
|
• ossifying center of the hyoid bone is missing at E18.5
|
|
• part of the palatal processes of the maxilla are present in E18.5 embryos
|
|
• only a fragment of the zygomatic process of the maxilla is found at E18.5
|
|
• most of the ectotympanic bone is missing in mutants at E18.5
|
|
• some defects in lens formation are suggested
|
|
• at E10.5 the optic eminence is reduced, as well as the corneal endoderm
|
|
• the eyelids fail to form during development
|
|
• part of the palatal processes of the maxilla are present in E18.5 embryos
|
|
• underdeveloped in mutants, consistent with hypoplasia of the medial and lateral nasal prominences
|
|
• underdeveloped in mutants, consistent with hypoplasia of the medial and lateral nasal prominences
|
|
• by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of E9.5 embryos
|
|
• part of the palatal processes of the maxilla are present in E18.5 embryos
|
|
• all embryos display hypoplasia of the facial prominences
• at E9.0 facial prominences are comparable to wild-type; shortly after, facial prominences fail to grow and by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of embryos at E9.5
• the groove overlying the lamina terminalis of forebrain which normally disappears around E10.5 is still present at E11.5
• increased cell death is observed at E10.5 in the developing facial region compared to controls
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• following treatment with tamoxifen, retinal vascular density is reduced compared to in wild-type retina
• however, endothelial junctional assemblies are normal
|
|
• excessive in the retina following tamoxifen treatment
|
|
• following treatment with tamoxifen, retinal vascular density is reduced compared to in wild-type retina
• however, endothelial junctional assemblies are normal
|
|
• excessive in the retina following tamoxifen treatment
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike in mice lacking Fgf8 over-expression, mice develop normal humeri with deltoid tuberosity and the radius is evident
|
|
• autopod rudiments
|
|
• the ulna is longer and thicker
|
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• near normal pelvic girdles and femurs with one or two ectopic cartilages
|
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• the ulna is longer and thicker
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• absent autopod elements
|
|
• thinner than in controls
|
|
• two-thirds of the ulna is missing
|
|
• largely absent with the exception of the small remnant of the pelvic girdle
|
|
• thinner than in controls
|
|
• two-thirds of the ulna is missing
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• with doxycycline induction from P8, hair follicles contain numerous apoptotic cells (more than in mutants with transgenic expression of Dkk1, or Dkk1 and Kremen
|
|
• with doxycline induction from P30, mutants completely lack external hair when examined at P100-102
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|
• with doxycycline induction from P8 hair follicles in mutants display structural defects at P24, including widened infundibulum and loss of a clearly distinguishable secondary hair germ
|
|
• with doxycycline induction from P8 hair follicles display a widened infundibulum at P24
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|
• with doxycycline induction from P30, hair follicles are mainly absent in mutants
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|
• with doxycycline induction from P30, hair follicles degrade and form utricles by P180
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|
• when doxycline induction is performed at P4 or P7 and dorsal skin harvested at P8 or P14, hair follicles in treated skin show cessation of anagen
• with doxycycline induction from P50 and hair plucking at P54, proliferation of secondary hair germ cells of follicles is decreased or absent and a new hair growth phase is not observed by P57
• with induction from P17 (catagen phase), follicles fail to enter anagen
|
|
• when doxycline induction is performed at P4 or P7 and dorsal skin harvested at P8 or P14, hair follicles in treated skin show entry into a premature regression phase compared to controls
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|
• dermal papillary cells are observed 'stranded' in the epidermis or at the end of 'streamers' of degenerating hair follicles
|
|
• when doxycline induction is performed from P4 to P60, enlargement of intercellular spaces and some cell membrane protrusions are observed in some areas of mutant skins
|
|
• when doxycline induction is performed from P4 to P60, expansion of the basal layer is observed
|
|
• when doxycline induction is performed from P4 to P60, expansion of the suprabasal layer is observed
|
|
• when doxycline induction is performed from P4 to P60, some keratinocytes display long membranous protrusions
|
|
• when doxycline induction is performed from P4 to P60, epidermis displays thickening and hyperproliferation
• with doxycycline induction from P30, epidermis is thickened at P100
|
|
• with doxycycline induction from P8, hair follicles contain numerous apoptotic cells (more than in mutants with transgenic expression of Dkk1, or Dkk1 and Kremen
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutant pups reach term but die within 24 hrs of birth
|
|
• at E12.5, reduced cell proliferation is noted in both ureteric and metanephric mesenchyme cells
• a modest (1.7-fold) decrease in ureteric bud cell proliferation is observed
|
|
• 57% of newborn pups exhibit bilateral tiny dysplastic kidney rudiments which are deficient in nephrons, collecting ducts, and cortico-medullary patterning
• a dysgenetic kidney phenotype is histologically evident at E13.5
|
|
• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls
• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered
|
|
• at P0, dysplastic kidney rudiments are deficient in collecting ducts
|
|
• at P0, newborn pups with dysplastic kidney rudiments lack a nephrogenic zone
|
|
• at P0, dysplastic kidney rudiments are tiny
• at E12.5, mutant kidneys are slightly smaller than wild-type but histologically normal
|
|
• at P0, dysplastic kidney rudiments exhibit very few nephron structures
|
|
• 43% of newborn pups exhibit bilateral renal aplasia
|
|
• at P0, newborn pups with dysplastic kidney rudiments exhibit hydroureter
|
|
• at E12.5, mutant kidneys show a highly attenuated ureteric branching pattern relative to wild-type kidneys
• by E13.5, ureteric bud tissue is reduced and developing nephrogenic structures are absent
• however, normal junctional complexes and adherens junctions are present in the epithelial cells of the ureteric bud at E13.5
|
|
• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls
• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered
|
|
• at E12.5, reduced cell proliferation is noted in both ureteric and metanephric mesenchyme cells
• a modest (1.7-fold) decrease in ureteric bud cell proliferation is observed
|
|
• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls
• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• flattened surface
|
|
• defective formation of tongue filiform papillae and the tongue barrier
|
|
• flattened surface
|
|
• defective formation of tongue filiform papillae and the tongue barrier
|
|
• decreased sweat duct basal cell proliferation
|
|
• flattened surface
|
|
• defective formation of tongue filiform papillae and the tongue barrier
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
• significantly increased frequency of defective tubules (with lost or exiguous germ cell layer(s))
• significantly increased frequency of Sertoli cell only tubules
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
• significantly increased frequency of defective tubules (with lost or exiguous germ cell layer(s))
• significantly increased frequency of Sertoli cell only tubules
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
• significantly increased frequency of defective tubules (with lost or exiguous germ cell layer(s))
• significantly increased frequency of Sertoli cell only tubules
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
• significantly increased frequency of defective tubules (with lost or exiguous germ cell layer(s))
• significantly increased frequency of Sertoli cell only tubules
• reduced number of Rarg+ undifferentiated spermatogonia in tubules
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• when induction is performed from P20-27, upper hair follicles and sebaceous glands are intact
• hyperproliferation is not observed in the epidermis
|
|
• after treatment of skin with RU486 to induce cre deletion, external hair growth fails
|
|
• when induction is performed from P20-27, secondary hair germ cells in some mutant hair follicles appear abnormal or absent at P60
|
|
• when animals are treated topically with RU486 for 5 days prior to hair plucking at P54, hair follicles in treated areas do not progress through anagen, while controls show robust hair regrowth 14 days after plucking
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• fewer than expected mice are born
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 50% die by E11.5 and 100% die by E13.5
|
|
• in the head, the vascular network is less organized, with vessels of irregular diameter and shape and often blind ending vessels and lacunae-like bifurcations are observed
• cephalic vessels show an inconstant diameter and often form acute turns and branching
|
|
• endocardial and vascular endothelial cells are more elongated, resulting in a continuously thinner endothelial layer
• endothelial cells present a higher degree of fenestration; these structures are discontinuities in the cell membranes
• endothelial cells have altered intercellular junctional organization, with thinner and longer bundles of actin filaments
|
|
• the labyrinthine layer is less vascularized, there is a reduction in the number of fetal blood vessels that penetrate into the labyrinthine area and they remain concentrated in the chorionic plate
|
|
• vitelline vessels have a smaller diameter
• however, the primary vascular plexus is present and correctly organized
|
|
• thin endocardium
|
|
• frequently have extensive liquid accumulation in the pericardial cavity
|
|
• about 50% of embryos have hemorrhages in different vascular areas such as the head and the dorsal vessels
|
|
• vitelline vessels have a smaller diameter
• however, the primary vascular plexus is present and correctly organized
|
|
• the labyrinthine layer is less vascularized, there is a reduction in the number of fetal blood vessels that penetrate into the labyrinthine area and they remain concentrated in the chorionic plate
|
|
• reduced in thickness
|
|
• umbilical vessels are often increased in number, have a smaller diameter and are abnormally branched or anastomosed
|
|
• seen at E10.5 but not E8.5
|
|
• frequently have extensive liquid accumulation in the pericardial cavity
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• after induction, mutants do not display overt blistering
|
|
• with topical tamoxifen treatment during the first telogen phase, epidermis exhibits increased proliferation as well as expanded expression of basal and suprabasal markers and hyperproliferation markers
|
|
• with doxycycline induction from P4-P60, mast cell number in the dermis is increased at P60
|
|
• with doxycycline induction from P4-P60, mast cell number in the dermis is increased at P60
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E16.5, clear zones of hypertrophy are visible in limbs compared to controls
|
|
• in mutant tibia, no Oc+ osteoblasts are detected, indicating failure of osteoblast progression to terminal osteoblasts
|
|
• hypertrophic chondrocytes line the periosteal region in addition to the normal growth plate
|
|
• membranous bone cranial ossification centers are absent at E18.5
• ossification in mutant periosteum of the tibia is absent
|
|
• at E18.5, mutant limbs show absence of mineralized bone matrix compared to wild-type embryos and remaining mineralization is associated with hypertrophic chondrocytes; there appears to be complete loss of bone deposition
|
|
• in mutant tibia, no Oc+ osteoblasts are detected, indicating failure of osteoblast progression to terminal osteoblasts
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at 1 month of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• auchene growth is terminated before formation of the single bend unlike in wild-type mice
• however, the first segment is normal
|
|
• shorter, thinner, and more numerous than in wild-type mice
|
|
• at the end of the first hair cycle, all hairs are shorter and thinner than in wild-type mice
|
|
• the first segment of zigzag hairs is variable in length from 60% to 100% of wild-type hair length
• the second segment is reduced in length 50% to 60% compared to in wild-type mice
• the first and second segments are thinner than in wild-type mice
• zigzag hairs lack the third and fourth segment unlike in wild-type mice
|
|
• duration of anagen is decreased compared to in wild-type mice
• hair follicles enter catagen prematurely compared to in wild-type mice
|
|
• catagen onset occurs at P12 and is less synchronized than in wild-type mice
|
|
• telogen begins earlier than in wild-type mice
|
|
• 40 days after depilation, only sparse hair regenerate unlike in similarly treated wild-type mice
|
|
• proliferation of matrix progenitor cells abutting the dermal papilla (MPADs) and their progeny is reduced compared to in wild-type mice
• mice fail to exhibit normal hair follicle regeneration compared with wild-type mice
|
|
• the number of apoptotic cells averaged over all follicles is increased
|
|
• the number of apoptotic cells averaged over all follicles is increased
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• epidermis where Ctnnb1 is deleted (following tamoxifen induction) exhibits significantly reduced cell proliferation (>40%) relative to control epidermis
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• most forelimbs lack structures distal to the scapula
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no mutant mice are born
|
|
• craniofacial bones derived from neural crest cells are absent
• bones present include optic vesicle, basioccipital, exoccipital
|
|
• craniofacial bones derived from neural crest cells are absent
• bones present include optic vesicle, basioccipital, exoccipital
|
|
• shortened neural tube
|
|
• brain morphogenesis grossly abnormal between E10.5 and 18.5
|
|
• isthmic border between midbrain and rhombencephalon not visible
|
|
• choroid plexus absent by E12.5
|
|
• indistinctly formed
|
|
• by E10.5 parts of the midbrain are missing
• no discernable midbrain by E12.5
|
|
• enlarged telencephalon
• walls of cephalic vesicles thinner
|
|
• anterior hindbrain is missing by E10.5
• poorly formed connections between cranial ganglia and hindbrain
|
|
• cerebellum is missing at E12.5
|
|
• anterior hindbrain is missing by E10.5
|
|
• combined ganglion with vestibulocochlear nerve abnormal
|
|
• roots poorly formed
|
|
• roots poorly formed
• hypoglossal nerve missing
|
|
• roots poorly formed
|
|
• first spinal root ganglion missing
• other spinal root ganglia severely affected as well
|
|
• shortened neural tube
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 4 days after BNF treatment increased apoptosis is seen in crypt epithelium
|
|
• 4 days after BNF treatment the number of crypts is reduced however by 5 days post treatment surviving crypts with unrecombined cells are enlarged and show increased proliferation
|
|
• the number of Paneth cells is reduced within the crypt 4 days after BNF treatment
|
|
• Paneth cells are in abnormal locations within the crypt 4 days after BNF treatment
|
|
• 4 days after BNF treatment the number of crypts is reduced however by 5 days post treatment surviving crypts with unrecombined cells are enlarged and show increased proliferation
|
|
• the number of Paneth cells is reduced within the crypt 4 days after BNF treatment
|
|
• Paneth cells are in abnormal locations within the crypt 4 days after BNF treatment
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• following depletion of beta-catenin in McSCs during anagen, McSCs fail to differentiate as shown by the absence of pigment and Tyr expression in McSCs at anagen onset
|
|
• following depletion of beta-catenin in McSCs during anagen, McSCs fail to proliferate as shown by the absence of Ki67 expression in McSCs at anagen onset; this is in contrast to control littermates that overexpress Edn1 with intact Wnt signaling
|
|
• following depletion of beta-catenin in McSCs during anagen, mice develop a hair-graying phenotype by the 2nd telogen; this is in contrast to control littermates that overexpress Edn1 with intact Wnt signaling
|
|
• following depletion of beta-catenin in McSCs during anagen, wounded mice show a significant reduction in the number of epidermal melanocytes relative to control littermates that overexpress Edn1 with intact Wnt signaling
|
|
• following depletion of beta-catenin in McSCs during anagen, mice develop a hair-graying phenotype by the 2nd telogen; this is in contrast to control littermates that overexpress Edn1 with intact Wnt signaling
|
|
• following depletion of beta-catenin in McSCs during anagen, wounded mice show a significant reduction in the number of epidermal melanocytes relative to control littermates that overexpress Edn1 with intact Wnt signaling
|
|
• following depletion of beta-catenin in McSCs during anagen, McSCs fail to differentiate as shown by the absence of pigment and Tyr expression in McSCs at anagen onset
|
|
• following depletion of beta-catenin in McSCs during anagen, McSCs fail to proliferate as shown by the absence of Ki67 expression in McSCs at anagen onset; this is in contrast to control littermates that overexpress Edn1 with intact Wnt signaling
|
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 04/23/2024 MGI 6.23 |
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