growth/size/body region phenotype

• decreased body size
  • slightly smaller than normal
  (MGI Ref ID J:214794)

pigmentation phenotype

• abnormal tail pigmentation
  (MGI Ref ID J:214794)

• belly spot
  (MGI Ref ID J:214794)

• decreased tail pigmentation
  • homozygotes often have irregular regions of diminished pigment on the tail
  (MGI Ref ID J:214794)

• white spotting
  • homozygotes have a white belly spot and, more rarely, a white spot on the back of an otherwise black coat
  (MGI Ref ID J:214794)

skeleton phenotype

• fused phalanges
  (MGI Ref ID J:214794)

vision/eye phenotype

• corneal opacity
  (MGI Ref ID J:214794)

• persistence of hyaloid vascular system
  (MGI Ref ID J:214794)

• abnormal eye morphology
  (MGI Ref ID J:214794)

• iris coloboma
  (MGI Ref ID J:214794)

integument phenotype

• belly spot
  (MGI Ref ID J:214794)

• abnormal tail pigmentation
  (MGI Ref ID J:214794)

• decreased tail pigmentation
  • homozygotes often have irregular regions of diminished pigment on the tail
  (MGI Ref ID J:214794)

• white spotting
  • homozygotes have a white belly spot and, more rarely, a white spot on the back of an otherwise black coat
  (MGI Ref ID J:214794)

limbs/digits/tail phenotype

• decreased tail pigmentation
  • homozygotes often have irregular regions of diminished pigment on the tail
  (MGI Ref ID J:214794)

• abnormal tail pigmentation
  (MGI Ref ID J:214794)

• fused phalanges
  (MGI Ref ID J:214794)

• syndactyly
  • fused digits on either or both of the front feet, but not the hind feet
  (MGI Ref ID J:214794)

integument phenotype

• belly spot
  • all (14 of 14) pups showed a white belly spot
  (MGI Ref ID J:256438)

• white spotting
  • 14 of 14 pups had a white belly spot and 4 of 14 also had a white spot on the back
  (MGI Ref ID J:256438)

limbs/digits/tail phenotype

• syndactyly
  • 6 of 14 pups showed webbed digits on one or both forelimbs
  (MGI Ref ID J:256438)

liver/biliary system phenotype

• absent liver
  • 1 of the eight E15.5 embryos obtained from a homozygous mating was very small and appeared to lack a liver
  (MGI Ref ID J:256438)

mammalian phenotype

• behavior/neurological phenotype
  • Normal - young adult homozygotes did not display obvious circling or shaking and showed a normal Preyer reflex
  (MGI Ref ID J:256438)

mortality/aging

• decreased survivor rate
  • less than half of homozygotes obtained from heterozygous matings survived birth; these were able to feed, develop into adults, and mate successfully
  (MGI Ref ID J:256438)

• lethality during fetal growth through weaning, incomplete penetrance
  • although homozygotes obtained from heterozygous matings were present at normal Mendelian ratios at E12.5-E17.5, homozygous mutant pups were obtained at less than half the expected number, with 14 of 174 (8%) being mutant pups versus 48 of 174 (28%) wild-type pups; fetuses undergoing resorption were also observed
  (MGI Ref ID J:256438)

nervous system phenotype

• abnormal brain morphology
  • exencephalic embryos showed absence of a cranium and gross defects in brain morphology
  (MGI Ref ID J:256438)

• exencephaly
  • 7 of the eight E15.5 embryos obtained from a homozygous mating had exencephaly, including one that also had omphalocele
  (MGI Ref ID J:256438)
  • 73% of embryos obtained from heterozygous matings exhibited exencephaly
  (MGI Ref ID J:256438)

• craniorachischisis
  • 18% of embryos exhibited craniorachischisis
  (MGI Ref ID J:256438)

cardiovascular system phenotype

• hemorrhage
  • all eight E15.5 embryos obtained from a homozygous mating exhibited blood in the amniotic sac
  (MGI Ref ID J:256438)
  • 64% of homozygous embryos from heterozygous matings had blood in the amniotic fluid
  (MGI Ref ID J:256438)

pigmentation phenotype

• belly spot
  • all (14 of 14) pups showed a white belly spot
  (MGI Ref ID J:256438)

• white spotting
  • 14 of 14 pups had a white belly spot and 4 of 14 also had a white spot on the back
  (MGI Ref ID J:256438)

skeleton phenotype

• acrania
  • exencephalic embryos showed absence of a cranium and gross defects in brain morphology
  (MGI Ref ID J:256438)

vision/eye phenotype

• abnormal lens development
  • at E16.5, eyes exhibited defects in lens formation, often associated with persistent hyaloid vasculature
  (MGI Ref ID J:256438)

• microphthalmia
  • 3 of 14 pups showed severe microphthalmia
  (MGI Ref ID J:256438)

• anophthalmia
  • 1 of 14 pups showed anophthalmia
  (MGI Ref ID J:256438)

• persistence of hyaloid vascular system
  • all 5 of the homozygotes whose eyes were dissected at 6 weeks showed persistent hyaloid vasculature that was pigmented and present bilaterally
  (MGI Ref ID J:256438)

• failure of eyelid fusion
  • at E16.5, some eyes failed to undergo eyelid closure; failure of or delayed eyelid closure was observed both in exencephalic and non-exencephalic embryos
  (MGI Ref ID J:256438)

craniofacial phenotype

• acrania
  • exencephalic embryos showed absence of a cranium and gross defects in brain morphology
  (MGI Ref ID J:256438)

embryo phenotype

• craniorachischisis
  • 18% of embryos exhibited craniorachischisis
  (MGI Ref ID J:256438)

• decreased embryo size
  • 9% of embryos exhibited gross developmental defects such as very small size
  (MGI Ref ID J:256438)
  • embryos were slightly smaller than controls even in the absence of exencephaly or other major defects
  (MGI Ref ID J:256438)

growth/size/body region phenotype

• decreased embryo size
  • embryos were slightly smaller than controls even in the absence of exencephaly or other major defects
  (MGI Ref ID J:256438)
  • 9% of embryos exhibited gross developmental defects such as very small size
  (MGI Ref ID J:256438)

• decreased body weight
  • at P21 and P28, the average body weight was slightly smaller than that of wild-type and heterozygous controls
  (MGI Ref ID J:256438)