Phenotypes Associated with This Genotype

Genotype
MGI:3698557

• Allelic Composition: Etn3^Ppd/Y
• Genetic Background: either: (involves: CD-1) or (involves: C3H/HeJ * CD-1)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Polypodia caudal appendicular skeletal malformations in Ppd/Y and Ppd/? mice.

mortality/aging

mortality/aging ( J:112867 )

♂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

abnormal autopod morphology ( J:112867 )

♂ • affected mice often have duplicated/mirror-image autopod ("clapping" configuration); ectopic autopod is usually non-functional

abnormal digit morphology ( J:112867 )

♂ • mutants with affected forelimbs sometimes show polydactyly, cutaneous syndactyly and severe oligodactyly

abnormal forelimb morphology ( J:112867 )

♂ • 3.7% of affected mice show forelimb defects unilaterally, in all cases

abnormal limb development ( J:112867 )

♂ • 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

abnormal skeleton development ( J:112867 )

♂ • 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

abnormal craniofacial morphology ( J:112867 )

♂ • system with lowest penetrance of defects (2.5%)

renal/urinary system

abnormal kidney morphology ( J:112867 )

♂ • 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

reproductive system phenotype ( J:112867 )

♂N • mice are fertile, but severely affected males do not produce offspring because of mechanical interference and/or impaired mobility

abnormal reproductive system morphology ( J:112867 )

♂ • 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

microphthalmia ( J:112867 )

♂ • founder had left-sided microphthalmia

neoplasm

increased skin papilloma incidence ( J:112867 )

♂ • 4.3% of affected mice have skin papillae in abnormal locations

integument

increased skin papilloma incidence ( J:112867 )

♂ • 4.3% of affected mice have skin papillae in abnormal locations