Phenotypes Associated with This Genotype

Genotype
MGI:3587024

• Allelic Composition: Hoxa13^Hd/Hoxa13^Hd
• Genetic Background: involves: MYA/Hu

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:5211 )

• most die before E16, though a few survive to maturity

growth/size/body

decreased body size ( J:64253 )

postnatal growth retardation ( J:64253 )

reproductive system

infertility ( J:5211 )

limbs/digits/tail

abnormal digit morphology ( J:5211 )

brachydactyly ( J:5211 , J:64253 )

• short single digit on each paw that has a terminal claw (J:5211)

ectrodactyly ( J:5211 )

• progression of ectrodactyly appears to be from pre- to postaxial sites, with the forepaw showing more advanced ectrodactyly than the hind paw, seen in the few homozygotes that survive to maturity

monodactyly ( J:5211 , J:64253 )

• single short digit on each fore and hind foot (J:64253)

abnormal limb bone morphology ( J:5211 )

abnormal carpal bone morphology ( J:5211 )

• carpals are misshapen, fused, and missing in the few homozygotes that survive to maturity

abnormal tarsal bone morphology ( J:5211 )

• tarsal defects in the few homozygotes that survive to maturity

abnormal metacarpal bone morphology ( J:5211 )

• metacarpal defects in the few homozygotes that survive to maturity

abnormal metatarsal bone morphology ( J:5211 )

• metatarsal defects in the few homozygotes that survive to maturity

renal/urinary system

hydronephrosis ( J:5211 )

• some that die neonatally have severe hydronephrosis

skeleton

abnormal limb bone morphology ( J:5211 )

abnormal carpal bone morphology ( J:5211 )

• carpals are misshapen, fused, and missing in the few homozygotes that survive to maturity

abnormal tarsal bone morphology ( J:5211 )

• tarsal defects in the few homozygotes that survive to maturity

abnormal metacarpal bone morphology ( J:5211 )

• metacarpal defects in the few homozygotes that survive to maturity

abnormal metatarsal bone morphology ( J:5211 )

• metatarsal defects in the few homozygotes that survive to maturity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hand-foot-genital syndrome		DOID:0060739	OMIM:140000	J:5211 , J:64253