growth/size/body
|
• frontal bones are defective, with absence of ossification near the metopic region
|
short snout
(
J:121871
)
|
• mutant mice exhibit a persistently shorter snout
|
|
• mutant mice are viable but show a ~25% reduction in overall size relative to control littermates
|
|
• mutant mice show a ~25% reduction in weight relative to control littermates
|
pigmentation
|
• all mutants show coat pigmentation defects involving multiple white patches of various sizes that spare the head
• however, no other neural crest-related defects such as cleft palate, spina bifida or exencephaly are observed
|
craniofacial
|
• mutant mice exhibit a noticeably smaller skull
|
|
• frontal bones are defective, with absence of ossification near the metopic region
|
|
• the relative size and position of parietal bones is abnormal
|
|
• mutant mice display predominantly malleal defects
• in contrast, the structure and size of incus and stapes appears normal
• in addition, normal hair cells are seen in the organ of Corti, utricle, and crista, and no absence of inner or outer hair cell stereocilia is observed
|
|
• the body of malleus is abnormally shaped
• the angle between the manubrium and the body of the malleus is increased
|
|
• the manubrium is shorter than normal
|
|
• the body of malleus is smaller than normal
|
short snout
(
J:121871
)
|
• mutant mice exhibit a persistently shorter snout
|
skeleton
|
• mutant mice exhibit a noticeably smaller skull
|
|
• frontal bones are defective, with absence of ossification near the metopic region
|
|
• the relative size and position of parietal bones is abnormal
|
|
• mutant mice display predominantly malleal defects
• in contrast, the structure and size of incus and stapes appears normal
• in addition, normal hair cells are seen in the organ of Corti, utricle, and crista, and no absence of inner or outer hair cell stereocilia is observed
|
|
• the body of malleus is abnormally shaped
• the angle between the manubrium and the body of the malleus is increased
|
|
• the manubrium is shorter than normal
|
|
• the body of malleus is smaller than normal
|
hearing/vestibular/ear
|
• mutant mice display predominantly malleal defects
• in contrast, the structure and size of incus and stapes appears normal
• in addition, normal hair cells are seen in the organ of Corti, utricle, and crista, and no absence of inner or outer hair cell stereocilia is observed
|
|
• the body of malleus is abnormally shaped
• the angle between the manubrium and the body of the malleus is increased
|
|
• the manubrium is shorter than normal
|
|
• the body of malleus is smaller than normal
|
|
• mutant mice display delayed evoked response latencies
|
|
• mutant mice show a significant hearing deficit attributed to malleal defects
|
behavior/neurological
|
• mutant mice do not appear startled in response to a loud noise e.g. clapping of hands
|
integument
|
• all mutants show coat pigmentation defects involving multiple white patches of various sizes that spare the head
• however, no other neural crest-related defects such as cleft palate, spina bifida or exencephaly are observed
|
respiratory system


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