mortality/aging
N |
• most affected mice have normal lifespan, but in some cases, premature death occurs as result of inflammation and necrosis of an ectopic limb
|
limbs/digits/tail
• affected mice often have duplicated/mirror-image autopod ("clapping" configuration); ectopic autopod is usually non-functional
|
• mutants with affected forelimbs sometimes show polydactyly, cutaneous syndactyly and severe oligodactyly
|
• 3.7% of affected mice show forelimb defects unilaterally, in all cases
|
• affected male founder had ectopic limb with no voluntary mobility, located anterior to penis
• mouse had one displaced left-sided posterior limb with limitied mobility and duplicated autopod
• some mutants exhibit single central/ventral ectopic limb or slightly off-midline limb-like element, which do not interfere with use of normal limbs
• other mutants have ectopic limbs which directly interfere with function or movement of normal limbs
|
curly tail
(
J:112867
)
• seen occasionally
|
kinked tail
(
J:112867
)
• seen occasionally
|
skeleton
• all visibly affected mice show caudal malformations
• affected mutants show wide range of variation in skeletal phenotype, often showing reduced or malformed ectopic limb elements and pelvic bones, including limb and pelvic duplications
• number of ectopic limbs/autopods shows great variation
|
craniofacial
• system with lowest penetrance of defects (2.5%)
|
renal/urinary system
• 3.7% of affected mice display kidney defects
• founder had severe unilateral hydronephrotic kidney
• other affected mutants have small or absent kidneys, with renal or collecting system abnormalities (cystic areas)
|
reproductive system
N |
• mice are fertile, but severely affected males do not produce offspring because of mechanical interference and/or impaired mobility
|
• in extreme cases, large adipose/connective tissue masses encompass entire genital area and contain ectopic limbs or limb elements
• mice display genital duplication with variable penetrance, although complete genital tract duplication has not been observed
• one male had an additional preputial gland and two penises
|
vision/eye
• founder had left-sided microphthalmia
|
neoplasm
• 4.3% of affected mice have skin papillae in abnormal locations
|
integument
• 4.3% of affected mice have skin papillae in abnormal locations
|