Analysis Tools
mortality/aging
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• death occurs between 20 and 30 days of age
• death does not result from starvation, as artificial feeding fails to prolong life significantly
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pigmentation
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• agouti coat appears grey
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• pheomelanin granules are clumped and reduced in the yellow band, whereas eumelanin granules are unchanged in the dark hair shafts
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craniofacial
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• the mental foramen becomes very enlarged and forms a protruding bulge of tissue formed from the back end of the incisor
|
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• shape and size are abnormal and the back of the lower incisor is found to grow through mental foramen, which becomes very enlarged and forms a protruding bulge from the back end of the incisor
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• homozygotes can be recognized at 18 days of gestation by their short lower incisors which do not extend caudally beneath the first lower molar tooth germs
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• particularly in the lower first molars, which are more compressed laterally
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• the uncalcified roots become complexly bent and wrinkled in the mandible and tend to leave the maxilla dorsally through the nerve foramina
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• there is a very wide layer of uncalcified matter in the dentine and the roots of teeth remain uncalcified
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• although there are malformed teeth in their sockets, they do not erupt
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short snout
(
J:13053
)
skeleton
|
• the mental foramen becomes very enlarged and forms a protruding bulge of tissue formed from the back end of the incisor
|
|
• shape and size are abnormal and the back of the lower incisor is found to grow through mental foramen, which becomes very enlarged and forms a protruding bulge from the back end of the incisor
|
|
• homozygotes can be recognized at 18 days of gestation by their short lower incisors which do not extend caudally beneath the first lower molar tooth germs
|
|
• particularly in the lower first molars, which are more compressed laterally
|
|
• the uncalcified roots become complexly bent and wrinkled in the mandible and tend to leave the maxilla dorsally through the nerve foramina
|
|
• there is a very wide layer of uncalcified matter in the dentine and the roots of teeth remain uncalcified
|
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• although there are malformed teeth in their sockets, they do not erupt
|
osteopetrosis
(
J:82658
)
|
• calcification of the bone is incomplete, wide layers of uncalcified bone cover many of the spongiosa spicules, all spongiosa formed persists, the periosteal bone is poorly developed
|
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• due to the failure of secondary bone resorption, bones cannot grow normally, they do not form normal marrow cavities, and the teeth do not erupt
(J:5561)
• absence of secondary remodelling results in abnormally shaped long limb bones, particularly the proximal end of the humerus and tibia and the distal end of the femur and radius
(J:13053)
|
homeostasis/metabolism
| N |
• no aberrant bleeding time after tail vein nick
|
growth/size/body
|
• shape and size are abnormal and the back of the lower incisor is found to grow through mental foramen, which becomes very enlarged and forms a protruding bulge from the back end of the incisor
|
|
• homozygotes can be recognized at 18 days of gestation by their short lower incisors which do not extend caudally beneath the first lower molar tooth germs
|
|
• particularly in the lower first molars, which are more compressed laterally
|
|
• the uncalcified roots become complexly bent and wrinkled in the mandible and tend to leave the maxilla dorsally through the nerve foramina
|
|
• there is a very wide layer of uncalcified matter in the dentine and the roots of teeth remain uncalcified
|
|
• although there are malformed teeth in their sockets, they do not erupt
|
short snout
(
J:13053
)
|
• mutants weigh less than their normal littermates from an early age, continue to be nursed by the mother long after the normal littermates are weaned, and even if sustained with a liquid diet they fail to gain weight and waste away
|
immune system
|
• non-purulent discharge from the eyes makes the eye-lids stick together after they have opened
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vision/eye
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• non-purulent discharge from the eyes makes the eye-lids stick together after they have opened
|
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• mutants often have the eyelids open slightly later than normal
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behavior/neurological
abnormal gait
(
J:13053
)
|
• a pecular gait developes wherein the limbs are stiffly streched so that the belly is far above the floor of the cage
|
integument
|
• agouti coat appears grey
|
|
• pheomelanin granules are clumped and reduced in the yellow band, whereas eumelanin granules are unchanged in the dark hair shafts
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive osteopetrosis 5 | DOID:0110939 |
OMIM:259720 |
J:5561 | |
