mortality/aging
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• mortality increases slightly up to the time of weaning and is very high the week after weaning
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• only approximately 22-24% of homozygotes survived to wean age
(J:5568)
• supplementation of the mothers copper intake during pregnancy and lactation can improve viability so that 50% of homozygotes survive to wean age
(J:5568)
• while only 22 to 24% of homozygotes survive to 30 days of age, supplementing the dam's diet with high levels of copper increased survival at 30 days of age to 50%
(J:5680)
• 40% die before 10 days of age
(J:13040)
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skeleton
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• incisors may be smaller and sometimes an incisor is lost
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• cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6Cd mutants
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• third molars are sometimes absent
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• reduction of molars tends to be more extreme in the first than in the second and third molars
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• incisors are more widely covered with enamel, even if normal sized
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growth/size/body
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• incisors may be smaller and sometimes an incisor is lost
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• cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6Cd mutants
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• third molars are sometimes absent
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• reduction of molars tends to be more extreme in the first than in the second and third molars
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• incisors are more widely covered with enamel, even if normal sized
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• at about 10-15 days of age, the ears are folded in a peculiar way and the pinnae appear to be drawn up toward the mid-dorsal line
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• already at birth, mutants are 5% lighter than controls; 20-30% lighter at 3 weeks
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craniofacial
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• incisors may be smaller and sometimes an incisor is lost
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• cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6Cd mutants
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• third molars are sometimes absent
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• reduction of molars tends to be more extreme in the first than in the second and third molars
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• incisors are more widely covered with enamel, even if normal sized
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• at about 10-15 days of age, the ears are folded in a peculiar way and the pinnae appear to be drawn up toward the mid-dorsal line
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limbs/digits/tail
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• tail has sharp flexures near the tip
(J:12999)
• young mice (5-14 days) have kinks or undulations along more than half the length of the tail; as mice age, the kinks straighten out and are confined to the extreme tip
(J:13040)
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pigmentation
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• increased maternal dietary copper during pregnancy and lactation can darken the coat color of homozygous pups assessed at 6 days of age
(J:5568)
• color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal
(J:64273)
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• delay in skin pigmentation due to delayed hair formation (by about 2 days)
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respiratory system
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• respiratory disorder is characterized by snuffling and is caused by an accumulation of hairs from the body in the nasal passages
(J:13040)
• frequently exhibit respiratory disorders
(J:64273)
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vision/eye
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• develop corneal ulceration in late life
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• later in life, the cornea becomes opaque
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• eyelids are abnormal leading to corneal ulceration in late life
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• the aperture made by the eyelids is smaller
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• reduced number of eyelashes, with both the longest and shortest lashes absent
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hearing/vestibular/ear
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• at about 10-15 days of age, the ears are folded in a peculiar way and the pinnae appear to be drawn up toward the mid-dorsal line
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behavior/neurological
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• mothering ability is somewhat reduced
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reproductive system
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• litter size is slightly smaller
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endocrine/exocrine glands
hematopoietic system
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• anemia with low hemoglobin levels, low red blood cell number, and low packed cell volume is found at 21 days of age
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nervous system
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• at 60 days of age homozygotes have less myelination
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• demyelination is found in 4 of 5 homozygotes over 1 year of age, and at 17 months of age there is focal degeneration in cerebellar white matter
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integument
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• scanning electron micrographs show that hairs from adults have alternate narrowing and thickening (monilethrix), twisting along the axis (pili torti), or rough nodular shafts with frayed ends (trichorrhexis nodosa)
(J:5568)
• absence of 2 or 3 of the 5 sensory hairs on each side of the face; lack the hair situated behind the eye, one of the two near the angle of the jaw, and one of the two above the eye
(J:13040)
• mutants contain only one type of hair resembling an abnormal awl; the number of rows of air-cells is not constant throughout the length of each hair and the diameter of the hair varies, regions with two rows of cells alternate with narrower regions having only one row and with broader regions having three rows
(J:13040)
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• increased maternal dietary copper during pregnancy and lactation can darken the coat color of homozygous pups assessed at 6 days of age
(J:5568)
• color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal
(J:64273)
|
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• growth of hair follicles is slower and the appearance of hair rudiments is delayed by about 2 days
• sinus follicles that do form, grow more slowly and their hairs erupt later than in wild-type
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• no hair on tail or behind ears
(J:12999)
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• hairs on the pinna are shorter and thinner
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• hair density is reduced
(J:64273)
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• coat is thin and has an abnormal texture which makes it look ungroomed
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• lack guard hairs in the adult coat
(J:12999)
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• lack zigzag hairs in the adult coat
(J:12999)
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• the diminished number of hair follicles in homozygous 6 day old pups is increased toward normal numbers by feeding the mother a high copper diet
(J:5680)
• formation of new hair follicles is suppressed between E12.5 and E17, and again from the time of birth onwards
(J:13040)
• the growth rate of those follicles that do form is slowed
(J:13040)
• first period of follicle suppression accounts for the absence of guard hairs and the second period for the absence of zigzags
(J:13040)
• sensory hair follicles are sometimes poorly developed; the first stage of the development of the post-orbital sinus follicle is normal, however after E12.5, further development is inhibited and the follicle regresses
(J:13040)
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• at 6 days of age the number of hair follicles is greatly reduced and there are few hairs emerging from the skin surface, but providing the mother with supplemental dietary copper during pregnancy and lactation can increase the number of hair follicles
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• the supra-orbital tubercle contains only one follicle instead of two as in wild-type at E13.5
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• at 6 days of age the skin has a smooth surface, but providing supplemental dietary copper to the mother during pregnancy and lactation can result in a rough epipermal surface in 6 day old pups
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• the pallid and smooth skin of homozygotes can be darkened and made more normal in texture by feeding the mother a high copper diet
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• delay in skin pigmentation due to delayed hair formation (by about 2 days)
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• the skin is thinner than normal and this can be diminished by giving the mother supplemental dietary copper during pregnancy and lactation
(J:5568)
• thin skin is seen soon after birth and persists throughout life
(J:13040)
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Analysis Tools