Analysis Tools
limbs/digits/tail
|
• as early as embryonic day 11
(J:6184)
|
hematopoietic system
| N |
• the changes in the three hemoglobins expressed during fetal development from embryonic day 10 to 15 are normal
|
|
• embryonic day 12-14 primitive nucleated erythrocytes have less hemoglobin content per cell than normal
• embryonic day 11-13 primitive nucleated erythrocytes have increased mitotic indices
• embryonic day 13 only 7% of the circulating cells are small non-nucleated erythrocytes compared with one third of the circulating cells in wildtype controls
• delayed fetal hepatic erythropoiesis wherein embyronic day 12 mutants have primarily immature erythroid precursors and wildtype controls have many immature and mature erythroblasts
|
hearing/vestibular/ear
|
• excess deposition of fine crystals frequently filling the entire cavity
• in some cases crystals surround and even cover the stapes
|
|
• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
|
|
• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge
• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge
|
|
• enlarged at 3, 4, 12 and 36 weeks of age
|
|
• increased thresholds to click and 8 kHz stimuli at 4 weeks of age
• at 8 weeks of age thresholds are increased at 8, 16, and 32 kHz, the average increase is 28db
|
|
• decrease in emissions at the tone 1 = 75 db stimulus level over a wide range of frequencies at 3 weeks of age
|
|
• chronic inflammation with effusion
• at 2 weeks of age the periosteal layer appears dilated, swollen, and delaminated
from the underlying bone
• inflammation persists at 36 and 56 weeks of age
|
craniofacial
|
• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
|
|
• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge
• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge
|
short snout
(
J:168509
)
growth/size/body
short snout
(
J:168509
)
|
• at embryonic day 11 mutants and wildtype can not be readily distinguished by growth retardation, but at embryonic day 12 mutants are clearly smaller and an approximately 1 day delay in development persists and is evident in reduced fetal weight and placental weight
• although the total hemoglobin content is lower in age matched mutant and wildtype embryos the ratio of hemoglobin content to embryo weight is normal indicating that the diminished hemoglobin level is part of the embryonic growth retardation
|
|
• at 8 weeks of age
|
omphalocele
(
J:6184
)
|
• in a small number of embryos
|
nervous system
anencephaly
(
J:6184
)
|
• in a small number of embryos
|
homeostasis/metabolism
|
• increase in organic phosphate levels
|
embryo
|
• at embryonic day 11 mutants and wildtype can not be readily distinguished by growth retardation, but at embryonic day 12 mutants are clearly smaller and an approximately 1 day delay in development persists and is evident in reduced fetal weight and placental weight
• although the total hemoglobin content is lower in age matched mutant and wildtype embryos the ratio of hemoglobin content to embryo weight is normal indicating that the diminished hemoglobin level is part of the embryonic growth retardation
|
|
• embryonic day 12-14 primitive nucleated erythrocytes have less hemoglobin content per cell than normal
• embryonic day 11-13 primitive nucleated erythrocytes have increased mitotic indices
• embryonic day 13 only 7% of the circulating cells are small non-nucleated erythrocytes compared with one third of the circulating cells in wildtype controls
• delayed fetal hepatic erythropoiesis wherein embyronic day 12 mutants have primarily immature erythroid precursors and wildtype controls have many immature and mature erythroblasts
|
immune system
|
• chronic inflammation with effusion
• at 2 weeks of age the periosteal layer appears dilated, swollen, and delaminated
from the underlying bone
• inflammation persists at 36 and 56 weeks of age
|
skeleton
|
• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
|
|
• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge
• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| otitis media | DOID:10754 | J:168509 | ||
