Phenotypes Associated with This Genotype

Genotype
MGI:3583764

• Allelic Composition: Shh^Dsh/Shh⁺
• Genetic Background: B10Rl.Cg-Shh^Dsh

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

cellular

decreased chondrocyte proliferation ( J:97323 )

• proliferation is reduced in nondifferentiating chondocytes and no proliferation of chondrocytes is seen where joints form

skeleton

decreased chondrocyte proliferation ( J:97323 )

• proliferation is reduced in nondifferentiating chondocytes and no proliferation of chondrocytes is seen where joints form

abnormal cranium morphology ( J:16170 )

abnormal neurocranium morphology ( J:16170 )

• have one or two holes between the frontal bones and 4 of 30 exhibit frontal-perietal bone fusion

• have one or more extra bones subdivided off between middle of parietals and interparietal bone

abnormal frontal bone morphology ( J:14105 , J:16170 )

• have a large hole between the frontals (J:14105)

• frontals fuse behind the hole (that is between the frontal bones) and the fusion complex extends halfway or more between the parietals toward the interparietal bone and the frontals bulge upward (J:16170)

thin interparietal bone ( J:16170 )

• width of the interparietal bone is decreased by 2%

occipital bone foramen ( J:16170 )

• occipital foramen with peculiar wide indentation on the dorsal side

abnormal maxilla morphology ( J:16170 )

• have large stalactite bones on maxilla

abnormal phalanx morphology ( J:14105 , J:97323 )

• one phalanx is absent in each digit that is shortened and phalanges have an abnormal shape and abnormal joints between them (J:14105)

brachyphalangia ( J:14105 , J:97323 )

• at least one of the phalanges remaining is short and phalanges on digit 1 are shortened (J:14105)

short metacarpal bones ( J:97323 )

• at 4 weeks of age, metacarpals are mildy shortened

abnormal rib morphology ( J:14105 , J:16170 )

• have bony plates over many ventral ribs (J:14105)

• have bony plates over many ventral ribs (J:16170)

abnormal vertebrae morphology ( J:16170 )

• dorsal dyssymphysis of the 9 most anterior vertebrae

abnormal cartilage morphology ( J:97323 )

abnormal cartilage development ( J:97323 )

• beginning at E14.5, chondrogenesis is delayed in the phalanges and metacarpals/tarsals

abnormal chondrocyte differentiation ( J:97323 )

• in the proximal and middle phalanges, chondrocytes remain undifferentiated, do not align in columns and do not hypertrophy

abnormal joint morphology ( J:97323 )

• joint cavitation is disturbed and joint formation is delayed or absent in the digits

fused joints ( J:97323 )

• the metacarpophalangeal joint is fused in digit IV

cervical vertebral fusion ( J:14105 )

• dyssymphyses of many cervical vertebrae

fusion of atlas and odontoid process ( J:16170 )

• the odontoid peg is not connected to the axis but fuses to the ventral inside of the atlas

limbs/digits/tail

abnormal phalanx morphology ( J:14105 , J:97323 )

• one phalanx is absent in each digit that is shortened and phalanges have an abnormal shape and abnormal joints between them (J:14105)

brachyphalangia ( J:14105 , J:97323 )

• at least one of the phalanges remaining is short and phalanges on digit 1 are shortened (J:14105)

brachydactyly ( J:14105 , J:16170 , J:97323 )

• digits 2-5 are short on all four extremities (J:14105)

syndactyly ( J:14105 , J:16170 , J:97323 )

• metatarsal-phalanx 1 fusion on digit 4 (J:14105)

• 15 of 30 have metatarsal-phalanx 1 fusion on digit 4 and 4 of 30 have metacarpal-phalanx 1 fusion on digit 4 (J:16170)

• fusion of the first and second phalanges of digits II-V (J:97323)

abnormal hindlimb morphology ( J:16170 )

• bony deposits in tissue behind calcaneus

short metacarpal bones ( J:97323 )

• at 4 weeks of age, metacarpals are mildy shortened

craniofacial

abnormal cranium morphology ( J:16170 )

abnormal neurocranium morphology ( J:16170 )

• have one or two holes between the frontal bones and 4 of 30 exhibit frontal-perietal bone fusion

• have one or more extra bones subdivided off between middle of parietals and interparietal bone

abnormal frontal bone morphology ( J:14105 , J:16170 )

• have a large hole between the frontals (J:14105)

• frontals fuse behind the hole (that is between the frontal bones) and the fusion complex extends halfway or more between the parietals toward the interparietal bone and the frontals bulge upward (J:16170)

thin interparietal bone ( J:16170 )

• width of the interparietal bone is decreased by 2%

occipital bone foramen ( J:16170 )

• occipital foramen with peculiar wide indentation on the dorsal side

abnormal maxilla morphology ( J:16170 )

• have large stalactite bones on maxilla

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
brachydactyly type A1		DOID:0110964	OMIM:112500	J:97323