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Phenotypes Associated with This Genotype
Genotype
MGI:2661079
Allelic
Composition
Gdf5bp-J/Gdf5bp-J
Gdf6tm1Kng/Gdf6tm1Kng
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * A/J * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf5bp-J mutation (2 available); any Gdf5 mutation (20 available)
Gdf6tm1Kng mutation (2 available); any Gdf6 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• normal mendelian ratios at birth, with less than 5% surviving to adulthood

skeleton
• a severe reduction or absence of carpal bones is observed
• a severe reduction of the proximal and middle phalanges of the forelimb is observed
• only remnants of phalanges resembling sesamoid bones or fusions of sesamoid bones and phalanges are noted in the forefeet
• at birth, the radius is bowed and appears to be dislocated from the elbow joint
• however, the radius straightens out by adulthood
• the ulna is reduced in size, exposing the pisiform underneath
• the ulna appears poorly ossified and shorter than the radius at late stages of embryogenesis and early postnatal stages but becomes fully ossified by adulthood
• metatarsal II is split into both a dorsal and a ventral element; both elements are fused to the tarsal bones
• in adulthood, 2 of 7 double homozygotes display severe scoliosis with curvatures between 39 and 67 degrees; not observed in newborns
• adult double homozygotes display a reduction of Alcian blue-stained cartilage matrix in the intervertebral articular processes between T13 and L2
• adult double homozygotes display a reduction of Alcian blue-stained cartilage matrix in the tip of spinous processes of vertebrae T12 to L3
• 86% of double homozygotes show fusion of carpal element 4/5 in the forelimb to the proximal end of metacarpal IV; this joint fusion is absent at E18.5 but becomes evident by P6
• 10 of 14 double homozygotes show joint fusions betweeen the metatarsal and proximal phalanx of digit V
• joint fusions between metacarpal and phalange rudiments of multiple digits and between the fibula and calcaneus are also observed
• the ulna appears poorly ossified and shorter than the radius at late stages of embryogenesis and early postnatal stages but becomes fully ossified by adulthood

limbs/digits/tail
• a severe reduction or absence of carpal bones is observed
• a severe reduction of the proximal and middle phalanges of the forelimb is observed
• only remnants of phalanges resembling sesamoid bones or fusions of sesamoid bones and phalanges are noted in the forefeet
• at birth, the radius is bowed and appears to be dislocated from the elbow joint
• however, the radius straightens out by adulthood
• the ulna is reduced in size, exposing the pisiform underneath
• the ulna appears poorly ossified and shorter than the radius at late stages of embryogenesis and early postnatal stages but becomes fully ossified by adulthood
• metatarsal II is split into both a dorsal and a ventral element; both elements are fused to the tarsal bones


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory