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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gdf6tm1Kng
targeted mutation 1, David M Kingsley
MGI:2661063
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gdf6tm1Kng/Gdf6tm1Kng involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2661064
cx2
Gdf5bp-J/Gdf5bp-J
Gdf6tm1Kng/Gdf6tm1Kng
involves: 129S1/Sv * 129X1/SvJ * A/J * C57BL/6J MGI:2661079


Genotype
MGI:2661064
hm1
Allelic
Composition
Gdf6tm1Kng/Gdf6tm1Kng
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf6tm1Kng mutation (2 available); any Gdf6 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected homozygotes are detected at 3 to 4 weeks of age
• however, normal Mendelian ratios are observed at E18.5

skeleton
• at E15.5-E18.5, mutant skulls show no signs of coronal suture formation
• mutant middle ear ossicles display altered shapes
• the mutant incus is reduced in size and displays an altered shape
• gaps between the malleus-incus and incus-stapes joints are observed
• gaps between the malleus-incus joints are observed
• the mutant malleus is reduced in size and displays an altered shape
• the mutant stapes is reduced in size and displays an altered shape
• gaps between the incus-stapes joints are observed
• the process at the edges of the stapes where it articulates with the oval window are absent
• the annular ligament which surrounds the base of the stapes and attaches it to the margin of the oval window is significantly thinned or absent
• mutant middle ear ossicles are reduced in size
• some homozygotes display a general disorganization of bones in the carpal region
• most homozygotes display fusion of 2 or 3 carpal bones in the wrist
• homozygotes display a dramatically reduced first distal tarsal
• homozygotes display fusion of the talus to the central tarsal bone
• fusion of the second and third distal tarsal bones is sometimes observed
• homozygotes display alterations in the articular surfaces where the malleus meets the incus, the incus meets the stapes, and the stapes meets the oval window
• at E18.5, homozygotes exhibit a significantly reduced rate of cell proliferation along surfaces of the malleus-incus joint and stapes-oval window joints relative to wild-type controls, as shown by BrdU staining
• gaps between the malleus-incus joints are observed
• gaps between the incus-stapes joints are observed
• homozygotes exhibit wrist and ankle fusions during early joint development due to failure of the large carpal and tarsal precursors to subdivide into separate skeletal elements at E14.5 and E15.5, respectively

limbs/digits/tail
• some homozygotes display a general disorganization of bones in the carpal region
• most homozygotes display fusion of 2 or 3 carpal bones in the wrist
• homozygotes display a dramatically reduced first distal tarsal
• homozygotes display fusion of the talus to the central tarsal bone
• fusion of the second and third distal tarsal bones is sometimes observed

craniofacial
• at E15.5-E18.5, mutant skulls show no signs of coronal suture formation
• mutant middle ear ossicles display altered shapes
• the mutant incus is reduced in size and displays an altered shape
• gaps between the malleus-incus and incus-stapes joints are observed
• the mutant malleus is reduced in size and displays an altered shape
• gaps between the malleus-incus joints are observed
• the mutant stapes is reduced in size and displays an altered shape
• gaps between the incus-stapes joints are observed
• the process at the edges of the stapes where it articulates with the oval window are absent
• the annular ligament which surrounds the base of the stapes and attaches it to the margin of the oval window is significantly thinned or absent
• mutant middle ear ossicles are reduced in size

hearing/vestibular/ear
• mutant middle ear ossicles display altered shapes
• the mutant incus is reduced in size and displays an altered shape
• gaps between the malleus-incus and incus-stapes joints are observed
• the mutant malleus is reduced in size and displays an altered shape
• gaps between the malleus-incus joints are observed
• the mutant stapes is reduced in size and displays an altered shape
• gaps between the incus-stapes joints are observed
• the process at the edges of the stapes where it articulates with the oval window are absent
• the annular ligament which surrounds the base of the stapes and attaches it to the margin of the oval window is significantly thinned or absent
• mutant middle ear ossicles are reduced in size




Genotype
MGI:2661079
cx2
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 (21 available)
Gdf6tm1Kng mutation (2 available); any Gdf6 mutation (18 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





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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory