Analysis Tools
growth/size/body
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• after first 1-2 weeks, mutants weigh ~50% as much as wild-type littermates
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• during the first 1 or 2 weeks after birth, mice exhibit lag in growth
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behavior/neurological
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• mutants initially display hypersensitivity to sound at 3 weeks of age
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• when suspended by the tail, mice exhibit violent jerking movements of their bodies without purposeful coordination
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head shaking
(
J:13035
)
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• affected mice shake their heads from side to side, from a few times to many times in rapid succession, starting as early as 3-4 days after birth; excursions are small
• shaking is most marked when mouse is active and ambulatory; movements tend to decrease when animal is quiet
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• when suspended by the tail, mice exhibit violent jerking movements of their bodies without purposeful coordination
• when placed in water, mice appear to lose all sense of direction and begin to gyrate frantically
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• animals circle, but behavior is not marked as in other circling mutants such as waltzers
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• some females produce litters which they fail to rear
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hearing/vestibular/ear
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• the cochlea appears normal
• do not turn deaf in old age
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• always completely absent
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• in many animals
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• the dorsal part of membranous labyrinth fails to differentiate into normal semicircular canals during embryonic development
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• missing the fenestra flocculi in the auditory capsule
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• mutants initially display hypersensitivity to sound at 3 weeks of age, but this is followed by a period where they respond to only drastic stimuli
• from 3-4 months of age onward, no response to auditory stimuli is observed
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• from 3-4 months of age, mice have severe hearing loss or are completely deaf
(J:13035)
• in subsequent analysis, it was shown that an auditory response could be elicited even in very old mutant mice
(J:13048)
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immune system
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• blisters of the corneal epithelium are present at early ages; these burst and coalesce, sometimes forming large ulcers
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• after birth once the eyes have opened, discharge from the conjunctiva occurs, such that the eyelids stick together; one or both eyes are closed in affected animals for much of their lives
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vision/eye
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• occurs in later stages of inflammation
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• hypertrophy of the tarsal glands of the eyelids
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• in both newborn and in adults
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• blisters of the corneal epithelium are present at early ages; these burst and coalesce, sometimes forming large ulcers
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• after birth once the eyes have opened, discharge from the conjunctiva occurs, such that the eyelids stick together; one or both eyes are closed in affected animals for much of their lives
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• small perforation of the entire thickness of each cornea near its centre in a few mutants
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• occurs in later stages, sometimes covering cornea completely
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small lens
(
J:13048
)
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• reduced in size from early stages of embryogenesis
• approximately 80% of the normal size in length
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• retina matures more slowly than in wild-type
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• cells in the retinal anlage do not begin transition to differentiated state in general nuclear layer until E12, whereas wild-type cells start transition at E11
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• much reduced eyes from the age of 13 days onward
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limbs/digits/tail
polydactyly
(
J:13035
)
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• usually involving first digit of hindlimbs, observed in small subset of animals
• occasionally only doubling of distal pad of toe, with or without claw occurs; in some cases, extra toe is completely separated from original and larger in size
• doubling of digits tends to disappear with growth
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• significantly higher incidence of tarsal fusions
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• Background Sensitivity: in some mutant mice of GFF background had a complete dislocation of the hip
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reproductive system
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• females are sometimes sterile while others show reduced fertility
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cellular
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• generation time (T) of retinal cells is longer (20 hours) than in wild-type (18 hours); cell cycle duration is increased 2 hours in mutants
• duration of S phase is 8.5 hours compared to 9.75 in wild-type; M phase is shorter (8.5 hours) than in wild-type (9.25 hours
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craniofacial
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• decreased size of the pterygoid process and the incidence of the foramen sphenoidale medium
• presphenoid-basisphenoid fusion in some
• parieto-squamosal fusion in some
• interfrontal-frontal fusion in some
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• missing the subarcuate fossa
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• decreased size of the pterygoid process
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• some mutants show a complete absence of the mandibular canal
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• some mutants show a complete absence of the mandibular foramina
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• some mutants show a complete absence of the mental foramina
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skeleton
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• decreased size of the pterygoid process and the incidence of the foramen sphenoidale medium
• presphenoid-basisphenoid fusion in some
• parieto-squamosal fusion in some
• interfrontal-frontal fusion in some
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• missing the subarcuate fossa
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• decreased size of the pterygoid process
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• some mutants show a complete absence of the mandibular canal
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• some mutants show a complete absence of the mandibular foramina
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• some mutants show a complete absence of the mental foramina
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• significantly higher incidence of tarsal fusions
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• Background Sensitivity: in some mutant mice of GFF background had a complete dislocation of the hip
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• considerably reduced anterior iliac spine
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• a decrease in the depth and in the diameter of the fossa acetabuli
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nervous system
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• the parafloccular lobe of the cerebellum becomes very abnormal in shape
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endocrine/exocrine glands
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• hypertrophy of the tarsal glands of the eyelids
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• in both newborn and in adults
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• hypertrophy of the Harderian glands
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cardiovascular system
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• occurs in later stages of inflammation
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integument
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• hypertrophy of the tarsal glands of the eyelids
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