Analysis Tools
mortality/aging
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• a few homozygotes survive to the age of one month but show severe growth retardation
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• most homozygotes die within 24 hours after birth
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pigmentation
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• the pigment layer of the retina is poorly organized
• the inner and outer nuclear layers of the retina appear developmentally retarded relative to wild-type
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• homozygotes display impaired ocular growth and are born without retinal pigment in either eye
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behavior/neurological
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• homozygotes showed loss of coordinated movement before death
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craniofacial
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• mutant newborns show holes in the basisphenoid bone
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growth/size/body
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• the birth weight of homozygous null mice is ~0.75 times that of wild-type littermates
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• most neonates or pups that survive for a few days after birth show unilateral or bilateral polycystic kidneys
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limbs/digits/tail
polydactyly
(
J:38288
)
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• some homozygotes show polydactyly of the inner digit on either one or both of the hindlimbs
• the extra digit can resemble any of the other five digits
• sometimes the metatarsal of the extra digit is fused to that of the inner digit
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kinked tail
(
J:38288
)
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• a few days after birth, homozygotes display a kinked tail due to the uneven thickness of intervertrebral discs
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renal/urinary system
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• most neonates or pups that survive for a few days after birth show unilateral or bilateral polycystic kidneys
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• newborn homozygotes display poor kidney development
• mutant kidneys exhibit sufficient glomerulogenesis but poor nephron development
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small kidney
(
J:38288
)
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• a reduced number of nephrons is observed
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• distal convoluted tubules appear underdeveloped
• in contrast, proximal convoluted tubules are well formed
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skeleton
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• the overall size of the mutant skeleton is smaller relative to wild-type
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• mutant newborns show holes in the basisphenoid bone
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• mutant newborns show holes in the in the xyphoid process; however, this phenotype is normalized at the age of 12 days
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rib fusion
(
J:38288
)
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• the mutant with fused vertebrae also showed fusion of some ribs and neural arches
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• homozygotes lack fusion of the neural spines of the atlas, 12th thoracic, and 1st sacral vertebrae
• also, mutants show openings on one or both sides of the neural arches of the 3rd and 4th thoracic vertebrae
• both phenotypes occur with variable penetrance
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• homozygotes lack one lumbar vertebra
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• the neural arches of the 11th thoracic to the 4th sacral vertebrae taper toward the midline, leaving gaps between consecutive vertebrae on the dorsal side
• the fused zygapophyses are missing on the dorsal side of the sacral vertebrae
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• one mutant showed fusion of the vertebral bodies of a few thoracic vertebrae
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• little or no mineralization is noted in various skeletal structures (including vertebral bodies, neural arches, proximal ribs, tibia, fibula and some parts of femur) of newborn mutant mice
• however, these differences are no longer apparent in 12-day-old mutant mice
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• the ossification centers of the vertebral bodies of the cervical vertebrae are either minute or almost missing
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vision/eye
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• the pigment layer of the retina is poorly organized
• the inner and outer nuclear layers of the retina appear developmentally retarded relative to wild-type
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• homozygotes display impaired ocular growth and are born without retinal pigment in either eye
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• homozygotes lack a detectable lens
• the nuclear layer of the retina is invaginated and occupies the space where the lens would normally be present
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• the mutant eyes remain closed even one month after birth
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