Analysis Tools
mortality/aging
| N |
• homozygotes are alive when kept on a protein-rich liquid diet
|
behavior/neurological
| N |
• homozygotes are not ataxic
|
|
• between 3 weeks and 2 months of age, mutants exhibit generalized seizures characterized by 3-min periods of often unilateral, myotonic limb extension, after which the mice recover
|
craniofacial
|
• at E18, homozygotes display a delay in frontal bone growth and interparietal and supraoccipital bone ossification
|
|
• in adult homozygotes, the mutant calvarium contains a significant midline foramen spanning the frontal bones
• frontal bone thickness is decreased anterior to the foramen
|
|
• the interparietal bone appears small and misshapen relative to wild-type
|
|
• the supraoccipital bone appears small and misshapen relative to wild-type
|
|
• mutant molars display severe degeneration, resulting in inability to chew solid food
|
|
• ameloblasts form, but undergo a progressive, TUNEL-negative degeneration after P1
• by P9, the ameloblast layer contains cellular debris and inflammatory cells, and only small amounts of enamel have accumulated
|
|
• at E16.5, homozygotes show a small reduction in enamel organ volume
• by P1, only a compact accumulation of epithelial cells is found in the mutant intercuspal regions; these cells abut the ameloblast layer and the stratum intermedium becomes indistinguishable
|
|
• at E17.5, the stellate reticulum is reduced in volume
|
|
• by P1, a discrete stratum intermedium is not identifiable
|
brittle teeth
(
J:61509
)
|
• mutant incisor teeth are brittle
|
malocclusion
(
J:61509
)
|
• mutant incisor teeth are misaligned
|
endocrine/exocrine glands
 |
• ~30% of mutant females exhibit abnormal mammary development
• in female neonates, mammary epithelial development arrests at the mammary sprout stage, developmentally equivalent to E16.5
|
limbs/digits/tail
short femur
(
J:61509
)
|
• the mutant femur length is 83% that of wild-type
|
short tibia
(
J:61509
)
|
• the mutant tibia length is 88% that of wild-type
|
skeleton
|
• tartrate-resistant acid phosphatase staining is diminished in the mutant proximal tibia, suggesting reduced osteoclast numbers
• by P30, the numbers of osteoblasts at the epiphysis are decreased
|
|
• in mutants, axial and appendicular skeletal lengths are reduced relative to wild-type
|
short femur
(
J:61509
)
|
• the mutant femur length is 83% that of wild-type
|
short tibia
(
J:61509
)
|
• the mutant tibia length is 88% that of wild-type
|
|
• the cell size of hypertrophic chondrocytes is reduced resulting in a smaller growth plate
|
|
• in mutants, axial and appendicular skeletal lengths are reduced relative to wild-type
|
|
• at E18, homozygotes display a delay in frontal bone growth and interparietal and supraoccipital bone ossification
|
|
• in adult homozygotes, the mutant calvarium contains a significant midline foramen spanning the frontal bones
• frontal bone thickness is decreased anterior to the foramen
|
|
• the interparietal bone appears small and misshapen relative to wild-type
|
|
• the supraoccipital bone appears small and misshapen relative to wild-type
|
|
• mutant molars display severe degeneration, resulting in inability to chew solid food
|
|
• ameloblasts form, but undergo a progressive, TUNEL-negative degeneration after P1
• by P9, the ameloblast layer contains cellular debris and inflammatory cells, and only small amounts of enamel have accumulated
|
|
• at E16.5, homozygotes show a small reduction in enamel organ volume
• by P1, only a compact accumulation of epithelial cells is found in the mutant intercuspal regions; these cells abut the ameloblast layer and the stratum intermedium becomes indistinguishable
|
|
• at E17.5, the stellate reticulum is reduced in volume
|
|
• by P1, a discrete stratum intermedium is not identifiable
|
brittle teeth
(
J:61509
)
|
• mutant incisor teeth are brittle
|
malocclusion
(
J:61509
)
|
• mutant incisor teeth are misaligned
|
|
• the osteoblast defect appears to predominate as mutants are osteopenic
|
|
• at P30, mutant tibias show reduced cortical bone thickness
|
|
• by P30, cancellous bone is reduced
|
|
• by P30, the numbers of resting, proliferative and hypertrophic chondrocytes are decreased
|
|
• by P30, homozygotes exhibit osteochondrodystrophy i.e. abnormal cartilage and endochondral bone formation
|
|
• in homozygotes, BrdU-labelled osteoprogenitors in osteogenic fronts are reduced by 46% and 51% at P0 and P4, respectively
|
nervous system
| N |
• homozygotes display no cerebral phenotype
|
|
• between 3 weeks and 2 months of age, mutants exhibit generalized seizures characterized by 3-min periods of often unilateral, myotonic limb extension, after which the mice recover
|
|
• homozygotes show a reduction in the number of cerebellar lobules
|
|
• homozygotes show a lamination failure of the PCL
|
|
• homozygotes show a lamination failure of the IGL
• Purkinje cells are present but fail to coalesce into a discrete PCL, and the IGL is not compacted
|
|
• mutants display disorganized hemispheral and anterior vermal lobules
|
|
• the mutant vermis lacks a posterior lobule corresponding to the pyramis
|
|
• the mutant vermis is hypoplastic
|
hematopoietic system
|
• tartrate-resistant acid phosphatase staining is diminished in the mutant proximal tibia, suggesting reduced osteoclast numbers
• by P30, the numbers of osteoblasts at the epiphysis are decreased
|
immune system
|
• tartrate-resistant acid phosphatase staining is diminished in the mutant proximal tibia, suggesting reduced osteoclast numbers
• by P30, the numbers of osteoblasts at the epiphysis are decreased
|
integument
| N |
• mutant pups show normal whisker pad histology, innervation, and whisker-related pattern formation along the trigeminal pathway
|
|
|
• ~30% of mutant females exhibit abnormal mammary development
• in female neonates, mammary epithelial development arrests at the mammary sprout stage, developmentally equivalent to E16.5
|
|
• beginning at P14, homozygotes loose their pelage, becoming nude except for the snout and peri-orbital regions
|
|
• pelage regrowth occurs, but premature loss also occurs for the second coat, followed again by regrowth; thereafter, hair loss is patchy
• hair loss is temporally associated with premature entry into the catagen phase of the hair growth cycle
|
long nails
(
J:61509
)
|
• at P5, mutant whiskers are curly
|
|
• at P5, mutant whiskers appear short and stubby
|
hearing/vestibular/ear
growth/size/body
|
• mutant molars display severe degeneration, resulting in inability to chew solid food
|
|
• ameloblasts form, but undergo a progressive, TUNEL-negative degeneration after P1
• by P9, the ameloblast layer contains cellular debris and inflammatory cells, and only small amounts of enamel have accumulated
|
|
• at E16.5, homozygotes show a small reduction in enamel organ volume
• by P1, only a compact accumulation of epithelial cells is found in the mutant intercuspal regions; these cells abut the ameloblast layer and the stratum intermedium becomes indistinguishable
|
|
• at E17.5, the stellate reticulum is reduced in volume
|
|
• by P1, a discrete stratum intermedium is not identifiable
|
brittle teeth
(
J:61509
)
|
• mutant incisor teeth are brittle
|
malocclusion
(
J:61509
)
|
• mutant incisor teeth are misaligned
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| parietal foramina | DOID:0060285 |
OMIM:168500 OMIM:609566 OMIM:609597 |
J:61509 | |
