Phenotypes associated with this allele

• Allele Symbol: Fbxw4^Dac
• Allele Name: dactylaplasia
• Allele ID: MGI:1857833
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbxw4^Dac/Fbxw4^Dac	involves: NZB/BlNJ	MGI:3027946
cx2	Fbxw4^Dac/Fbxw4^Dac mdac/mdac	involves: SM/Ckc	MGI:2175880
cx3	Fbxw4^Dac/Fbxw4^+ mdac/mdac	involves: SM/Ckc	MGI:2175881
cx4	Fbxw4^Dac/Fbxw4^Dac mdac/mdac	involves: SM/Ckc * BALB/cByJ	MGI:4457110
cx5	Fbxw4^Dac/Fbxw4^+ mdac/mdac	involves: SM/Ckc * BALB/cByJ	MGI:4457112

Genotype
MGI:3027946

hm1

• Allelic Composition: Fbxw4^Dac/Fbxw4^Dac
• Genetic Background: involves: NZB/BlNJ

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

limbs/digits/tail

oligodactyly ( J:29220 )

• mice were viable and fertile but had more severe digit malformations; only a single remaining digit

Genotype
MGI:2175880

cx2

• Allelic Composition: Fbxw4^Dac/Fbxw4^Dac; mdac/mdac
• Genetic Background: involves: SM/Ckc

mortality/aging

prenatal lethality, complete penetrance ( J:29220 )

• gestation day not specified

Genotype
MGI:2175881

cx3

• Allelic Composition: Fbxw4^Dac/Fbxw4⁺; mdac/mdac
• Genetic Background: involves: SM/Ckc

limbs/digits/tail

ectrodactyly ( J:29220 )

• 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		DO ID	OMIM ID(s)	Ref(s)
split hand-foot malformation 3		DOID:0090025	OMIM:246560	J:29220 , J:133888

Genotype
MGI:4457110

cx4

• Allelic Composition: Fbxw4^Dac/Fbxw4^Dac; mdac/mdac
• Genetic Background: involves: SM/Ckc * BALB/cByJ

mortality/aging

neonatal lethality, incomplete penetrance ( J:49808 )

• the majority of homozygotes on this background die at birth

limbs/digits/tail

decreased autopod size ( J:49808 )

• 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

adactyly ( J:49808 )

• 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

abnormal talus morphology ( J:49808 )

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

abnormal limb development ( J:49808 )

• at embryonic day 13.5 the distal radius and tibia blastemas appear shortened

abnormal apical ectodermal ridge morphology ( J:49808 )

• 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

absent apical ectodermal ridge ( J:49808 )

thin apical ectodermal ridge ( J:49808 )

abnormal digit development ( J:49808 )

abnormal embryonic autopod plate morphology ( J:49808 )

• 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

abnormal talus morphology ( J:49808 )

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

embryo

abnormal apical ectodermal ridge morphology ( J:49808 )

• 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

absent apical ectodermal ridge ( J:49808 )

thin apical ectodermal ridge ( J:49808 )

Genotype
MGI:4457112

cx5

• Allelic Composition: Fbxw4^Dac/Fbxw4⁺; mdac/mdac
• Genetic Background: involves: SM/Ckc * BALB/cByJ

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:49808 )

• 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

thin apical ectodermal ridge ( J:49808 )

abnormal autopod morphology ( J:49808 )

• the overall size of the hand plate is reduced at embryonic day 12.5

fused phalanges ( J:49808 )

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

ectrodactyly ( J:49808 )

• 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

abnormal digit development ( J:49808 )

• 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

fused phalanges ( J:49808 )

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

embryo

abnormal apical ectodermal ridge morphology ( J:49808 )

• 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

thin apical ectodermal ridge ( J:49808 )