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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
mdac
recessive modifier of Dac
MGI:3027244
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Fbxw4Dac-2J/Fbxw4Dac-2J
mdac/mdac
CBy.MRL-Fbxw4Dac-2J/J MGI:2175878
cx2
Fbxw4Dac-2J/Fbxw4+
mdac/mdac
CBy.MRL-Fbxw4Dac-2J/J MGI:4456999
cx3
Fbxw4Dac/Fbxw4Dac
mdac/mdac
involves: SM/Ckc MGI:2175880
cx4
Fbxw4Dac/Fbxw4+
mdac/mdac
involves: SM/Ckc MGI:2175881
cx5
Fbxw4Dac/Fbxw4Dac
mdac/mdac
involves: SM/Ckc * BALB/cByJ MGI:4457110
cx6
Fbxw4Dac/Fbxw4+
mdac/mdac
involves: SM/Ckc * BALB/cByJ MGI:4457112


Genotype
MGI:2175878
cx1
Allelic
Composition
Fbxw4Dac-2J/Fbxw4Dac-2J
mdac/mdac
Genetic
Background
CBy.MRL-Fbxw4Dac-2J/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw4Dac-2J mutation (1 available); any Fbxw4 mutation (19 available)
mdac mutation (0 available); any Mdac mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• gestation day not specified




Genotype
MGI:4456999
cx2
Allelic
Composition
Fbxw4Dac-2J/Fbxw4+
mdac/mdac
Genetic
Background
CBy.MRL-Fbxw4Dac-2J/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw4Dac-2J mutation (1 available); any Fbxw4 mutation (19 available)
mdac mutation (0 available); any Mdac mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• affects particularly the three middle digits, on each foot
• often the metatarsal and metacarpal bones are partially or completely missing or fused; the forefeet are more severely affected than the hindfeet
• the defects are clearly recognizable in 15-day embryos

Mouse Models of Human Disease
OMIM ID Ref(s)
Split-Hand/Foot Malformation 3; SHFM3 246560 J:133888




Genotype
MGI:2175880
cx3
Allelic
Composition
Fbxw4Dac/Fbxw4Dac
mdac/mdac
Genetic
Background
involves: SM/Ckc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw4Dac mutation (1 available); any Fbxw4 mutation (19 available)
mdac mutation (0 available); any Mdac mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• gestation day not specified




Genotype
MGI:2175881
cx4
Allelic
Composition
Fbxw4Dac/Fbxw4+
mdac/mdac
Genetic
Background
involves: SM/Ckc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw4Dac mutation (1 available); any Fbxw4 mutation (19 available)
mdac mutation (0 available); any Mdac mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• particularly the three middle digits, on each foot
• often the metatarsal and metacarpal bones are partially or completely missing or fused; the forefeet are more severely affected than the hindfeet
• the defects are clearly recognizable in 15-day embryos

Mouse Models of Human Disease
OMIM ID Ref(s)
Split-Hand/Foot Malformation 3; SHFM3 246560 J:29220 , J:133888




Genotype
MGI:4457110
cx5
Allelic
Composition
Fbxw4Dac/Fbxw4Dac
mdac/mdac
Genetic
Background
involves: SM/Ckc * BALB/cByJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw4Dac mutation (1 available); any Fbxw4 mutation (19 available)
mdac mutation (0 available); any Mdac mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the majority of homozygotes on this background die at birth

limbs/digits/tail
• at embryonic day 18.5 only the posterior bones of the autopod remain and these are sometimes found to be dysmorphic, and some homozygotes show a reduction in the distal radius of the autopods
• the overall size of the hand plate is reduced at embryonic day 12.5, to a greater degree than in heterozygotes
• at embryonic day 18.5 homozygotes have only one posterior digit, which is similar in shape and size to digit 5 in wild-type mice
• premature ossification of the talus is found in some homozygotes at embryonic day 18.5
• at embryonic day 13.5 the distal radius and tibia blastemas appear shortened
• at embryonic day 10.5 the apical ectrodermal ridge appears normal by scanning electron microscopy, but at day 11.5 most of the apical ectodermal ridge has degenerated leaving only the posterior region intact and this comparative reduction in size is due to diminished proliferation of apical ectodermal ridge cells at embryonic day 10.5 and not apoptosis
• disruption of the formation of the hand plate at embryonic day 11.5, apparently prior to chondrogenesis, and reduction in the size of the hand and foot plates

skeleton
• premature ossification of the talus is found in some homozygotes at embryonic day 18.5

embryo
• at embryonic day 10.5 the apical ectrodermal ridge appears normal by scanning electron microscopy, but at day 11.5 most of the apical ectodermal ridge has degenerated leaving only the posterior region intact and this comparative reduction in size is due to diminished proliferation of apical ectodermal ridge cells at embryonic day 10.5 and not apoptosis




Genotype
MGI:4457112
cx6
Allelic
Composition
Fbxw4Dac/Fbxw4+
mdac/mdac
Genetic
Background
involves: SM/Ckc * BALB/cByJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw4Dac mutation (1 available); any Fbxw4 mutation (19 available)
mdac mutation (0 available); any Mdac mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• although morphologically normal by scanning electron microscopy at embryonic day 10.5, by embryonic day 11.5 the apical ectodermal ridge in limbs of heterozygotes shows sporadic degeneration
• the overall size of the hand plate is reduced at embryonic day 12.5
• bone fusion between digits 4 and 5 at the first phalange is generally observed
• digits 2 and 3 are commonly missing from one to four feet, with digits 1, 4 and 5 remaining and digits 4 and 5 fused at the first phalange
• at embryonic day 13.5 there is a reduction in the formation of the central digit blastemas and an altered pattern of chondrogenesis of carpal and tarsal elements

skeleton
• bone fusion between digits 4 and 5 at the first phalange is generally observed

embryo
• although morphologically normal by scanning electron microscopy at embryonic day 10.5, by embryonic day 11.5 the apical ectodermal ridge in limbs of heterozygotes shows sporadic degeneration





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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory