Phenotypes associated with this allele

• Allele Symbol: Gdf5⁺
• Allele Name: wild type
• Allele ID: MGI:2430592
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gdf5^bp-J/Gdf5^+	A/J-Gdf5^bp-J/J	MGI:3789179
ht2	Gdf5^Bp-5J/Gdf5^+	C57BL/6J-Gdf5^Bp-5J/GrsrJ	MGI:5509382
ht3	Gdf5^Rgsc451/Gdf5^+	C57BL/6JJcl-Gdf5^Rgsc451	MGI:3758632
cx4	Bmpr1b^tm1Kml/Bmpr1b^+ Gdf5^bp-J/Gdf5^+	involves: 129S/SvEv * A/J * C57BL/6J	MGI:3789180

Genotype
MGI:3789179

ht1

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

• ♀: 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

Genotype
MGI:5509382

ht2

• Allelic Composition: Gdf5^Bp-5J/Gdf5⁺
• Genetic Background: C57BL/6J-Gdf5^Bp-5J/GrsrJ

growth/size/body

disproportionate dwarf ( J:200816 )

• the body length is normal, but the limbs are shortened and the feet and digits are malformed and shortened

limbs/digits/tail

abnormal limb morphology ( J:200816 )

brachypodia ( J:200816 )

• the feet are underdeveloped and shortened

brachydactyly ( J:200816 )

• all feet have severely shortened digits

micromelia ( J:200816 )

• all four limbs are shortened

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acromesomelic dysplasia, Grebe type		DOID:0080052	OMIM:200700	J:200816
acromesomelic dysplasia, Hunter-Thompson type		DOID:0080051	OMIM:201250	J:200816
brachydactyly type A1C		DOID:0110977	OMIM:615072	J:200816
brachydactyly type A2		DOID:0110965	OMIM:112600	J:200816
brachydactyly type C		DOID:0110970	OMIM:113100	J:200816
fibular hypoplasia and complex brachydactyly		DOID:0050790	OMIM:228900	J:200816
multiple synostoses syndrome		DOID:0050794	OMIM:PS186500	J:200816

Genotype
MGI:3758632

ht3

• Allelic Composition: Gdf5^Rgsc451/Gdf5⁺
• Genetic Background: C57BL/6JJcl-Gdf5^Rgsc451

limbs/digits/tail

brachypodia ( J:125122 )

abnormal phalanx morphology ( J:125122 )

• the proximal and middle phalanges are short and fused

• however, the lengths of the distal phalanges and metacarpal/metatarsal bones are normal

skeleton

abnormal phalanx morphology ( J:125122 )

• the proximal and middle phalanges are short and fused

• however, the lengths of the distal phalanges and metacarpal/metatarsal bones are normal

abnormal cartilage morphology ( J:125122 )

• at 8 weeks, the peripheral (finger/toe) joints in 1 of 3 mice exhibits mild degeneration in the distal interphalangeal joint

fused joints ( J:125122 )

• the metacarpo-/metatarso-phalanges joints are fused

Genotype
MGI:3789180

cx4

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

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