All Phenotypes Gdf5<bp-J> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gdf5^bp-J/Gdf5^bp-J	A/J-Gdf5^bp-J/J	MGI:3702968
ht2	Gdf5^bp-J/Gdf5⁺	A/J-Gdf5^bp-J/J	MGI:3789179
cx3	Gdf5^bp-J/Gdf5^bp-J Gdf6^tm1Kng/Gdf6^tm1Kng	involves: 129S1/Sv * 129X1/SvJ * A/J * C57BL/6J	MGI:2661079
cx4	Bmpr1b^tm1Kml/Bmpr1b⁺ Gdf5^bp-J/Gdf5⁺	involves: 129S/SvEv * A/J * C57BL/6J	MGI:3789180
cx5	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Gdf5^bp-J/Gdf5^bp-J	involves: 129S/SvEv * A/J * C57BL/6J	MGI:3789181
cx6	Bmpr1b^{Tg(ACTB-FLP)4917Dym}/Bmpr1b^{Tg(ACTB-FLP)4917Dym} Gdf5^bp-J/Gdf5^bp-J	involves: A/J * C57BL/6 * SJL	MGI:3702969

Allelic Composition	Gdf5^bp-J/Gdf5^bp-J
Genetic Background	A/J-Gdf5^bp-J/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf5^bp-J mutation (2 available); any Gdf5 mutation (27 available)

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

embryo

abnormal limb mesenchyme morphology ( J:17582 )

• mesenchyme from mutant mice shows a reduced ability to form aggregates and cartilaginous nodules in vitro

limbs/digits/tail

brachypodia ( J:17582 )

• feet are much shorter than controls

abnormal digit morphology ( J:17582 )

• the reduction in length of the feet is largely the result of altered patterning of segments in the digits

abnormal limb bone morphology ( J:59288 )

• mice have unusual sesamoid morphology

abnormal carpal bone morphology ( J:17582 )

• slight disorganization of the carpals and tarsals

abnormal phalanx morphology ( J:59288 )

• P1 and P2 are replaced by a single rudimentary element (P1/P2)

brachyphalangia ( J:59282 )

• the proximal and middle phalanges are reduced

fused phalanges ( J:17582 , J:59282 )

• in place of the proximal and medial phalanges is a single bone resulting from a fusion of the proximal and medial phalangeal condensations (J:17582)

• the proximal and middle phalanges are fused (J:59282)

abnormal tarsal bone morphology ( J:17582 )

• slight disorganization of the carpals and tarsals

short metacarpal bones ( J:17582 , J:59282 )

• defects in the length of the metacarpals (J:17582)

short metatarsal bones ( J:17582 , J:59282 )

• defects in the length of the metatarsals (J:17582)

abnormal limb development ( J:59288 )

• in mutants, length of long bones of forelimbs and hindlimbs is severely reduced

abnormal limb mesenchyme morphology ( J:17582 )

• mesenchyme from mutant mice shows a reduced ability to form aggregates and cartilaginous nodules in vitro

abnormal digit development ( J:17582 )

• digit condensations in mutant mice are thin, malformed, and slow to initiate chondrogenesis

skeleton

abnormal limb bone morphology ( J:59288 )

• mice have unusual sesamoid morphology

abnormal carpal bone morphology ( J:17582 )

• slight disorganization of the carpals and tarsals

abnormal phalanx morphology ( J:59288 )

• P1 and P2 are replaced by a single rudimentary element (P1/P2)

brachyphalangia ( J:59282 )

• the proximal and middle phalanges are reduced

fused phalanges ( J:17582 , J:59282 )

• in place of the proximal and medial phalanges is a single bone resulting from a fusion of the proximal and medial phalangeal condensations (J:17582)

• the proximal and middle phalanges are fused (J:59282)

abnormal tarsal bone morphology ( J:17582 )

• slight disorganization of the carpals and tarsals

decreased length of long bones ( J:17582 )

• long bones of the limb are slightly shorter

short metacarpal bones ( J:17582 , J:59282 )

• defects in the length of the metacarpals (J:17582)

short metatarsal bones ( J:17582 , J:59282 )

• defects in the length of the metatarsals (J:17582)

joint dislocation ( J:59282 )

• mutants exhibit frequent joint dislocations

Allelic Composition	Gdf5^bp-J/Gdf5⁺
Genetic Background	A/J-Gdf5^bp-J/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf5^bp-J mutation (2 available); any Gdf5 mutation (27 available)

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

limbs/digits/tail

abnormal phalanx morphology ( J:59282 )

• 46% of heterozygous newborns exhibit delayed ossification of the middle phalanx

skeleton

abnormal phalanx morphology ( J:59282 )

• 46% of heterozygous newborns exhibit delayed ossification of the middle phalanx

delayed bone ossification ( J:59282 )

• 46% of heterozygous newborns exhibit delayed ossification of the middle phalanx

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

mortality/aging

premature death ( J:83132 )

• normal mendelian ratios at birth, with less than 5% surviving to adulthood

skeleton

abnormal carpal bone morphology ( J:83132 )

• a severe reduction or absence of carpal bones is observed

abnormal phalanx morphology ( J:83132 )

• 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

absent talus ( J:83132 )

bowed radius ( J:83132 )

• at birth, the radius is bowed and appears to be dislocated from the elbow joint

• however, the radius straightens out by adulthood

short ulna ( J:83132 )

• 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

abnormal metatarsal bone morphology ( J:83132 )

• metatarsal II is split into both a dorsal and a ventral element; both elements are fused to the tarsal bones

scoliosis ( J:83132 )

• in adulthood, 2 of 7 double homozygotes display severe scoliosis with curvatures between 39 and 67 degrees; not observed in newborns

abnormal vertebral articular process morphology ( J:83132 )

• adult double homozygotes display a reduction of Alcian blue-stained cartilage matrix in the intervertebral articular processes between T13 and L2

abnormal vertebral spinous process morphology ( J:83132 )

• adult double homozygotes display a reduction of Alcian blue-stained cartilage matrix in the tip of spinous processes of vertebrae T12 to L3

fused joints ( J:83132 )

• 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

delayed bone ossification ( J:83132 )

• 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

abnormal carpal bone morphology ( J:83132 )

• a severe reduction or absence of carpal bones is observed

abnormal phalanx morphology ( J:83132 )

• 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

absent talus ( J:83132 )

bowed radius ( J:83132 )

• at birth, the radius is bowed and appears to be dislocated from the elbow joint

• however, the radius straightens out by adulthood

short ulna ( J:83132 )

• 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

abnormal metatarsal bone morphology ( J:83132 )

• metatarsal II is split into both a dorsal and a ventral element; both elements are fused to the tarsal bones

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
acromesomelic dysplasia, Grebe type	DOID:0080052	OMIM:200700	J:83132
idiopathic scoliosis	DOID:0060250		J:83132

Allelic Composition	Bmpr1b^tm1Kml/Bmpr1b⁺ Gdf5^bp-J/Gdf5⁺
Genetic Background	involves: 129S/SvEv * A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (37 available)
Gdf5^bp-J mutation (2 available); any Gdf5 mutation (27 available)

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

limbs/digits/tail

abnormal phalanx morphology ( J:59282 )

• 100% of mutants show delayed ossification of the middle phalanx

skeleton

abnormal phalanx morphology ( J:59282 )

• 100% of mutants show delayed ossification of the middle phalanx

delayed bone ossification ( J:59282 )

• 100% of mutants show delayed ossification of the middle phalanx

Allelic Composition	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Gdf5^bp-J/Gdf5^bp-J
Genetic Background	involves: 129S/SvEv * A/J * C57BL/6J

Find Mice

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

limbs/digits/tail

abnormal limb morphology ( J:59282 )

• limbs of double homozygotes resemble those of single Gdf5^bp-J homozygotes

fused metacarpal bones ( J:59282 )

• fusion of the ulnar carpal and hamate bones

short metacarpal bones ( J:59282 )

• in the forelimbs, metacarpals I, II and V of newborns are reduced to a greater extent than in either single mutant

fused metatarsal bones ( J:59282 )

• fusions/reductions of sternal and tarsal elements are seen

skeleton

fused metacarpal bones ( J:59282 )

• fusion of the ulnar carpal and hamate bones

short metacarpal bones ( J:59282 )

• in the forelimbs, metacarpals I, II and V of newborns are reduced to a greater extent than in either single mutant

fused metatarsal bones ( J:59282 )

• fusions/reductions of sternal and tarsal elements are seen

Allelic Composition	Bmpr1b^{Tg(ACTB-FLP)4917Dym}/Bmpr1b^{Tg(ACTB-FLP)4917Dym} Gdf5^bp-J/Gdf5^bp-J
Genetic Background	involves: A/J * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1b^{Tg(ACTB-FLP)4917Dym} mutation (0 available); any Bmpr1b mutation (37 available)
Gdf5^bp-J mutation (2 available); any Gdf5 mutation (27 available)

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

limbs/digits/tail

abnormal digit morphology ( J:59288 )

• mutants have similar defects to Gdf5^bp-J homozygotes

abnormal metacarpal bone morphology ( J:59288 )

• individual metacarpals fail to segment properly from carpal bones

abnormal metatarsal bone morphology ( J:59288 )

• individual metatarsals fail to segment properly from tarsal bones

skeleton

abnormal metacarpal bone morphology ( J:59288 )

• individual metacarpals fail to segment properly from carpal bones

abnormal metatarsal bone morphology ( J:59288 )

• individual metatarsals fail to segment properly from tarsal bones

abnormal cartilage development ( J:59288 )

• digit cartilages fail to develop, but runted pharangeal elements are observed

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