Mouse Genome Informatics
ht
    ShhDsh/Shh+
B10Rl.Cg-ShhDsh
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• 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
• 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)
• width of the interparietal bone is decreased by 2%
• occipital foramen with peculiar wide indentation on the dorsal side
• have large stalactite bones on maxilla
• one phalanx is absent in each digit that is shortened and phalanges have an abnormal shape and abnormal joints between them (J:14105)
• at least one of the phalanges remaining is short and phalanges on digit 1 are shortened (J:14105)
• at 4 weeks of age, metacarpals are mildy shortened
• have bony plates over many ventral ribs (J:14105)
• have bony plates over many ventral ribs (J:16170)
• dorsal dyssymphysis of the 9 most anterior vertebrae
• beginning at E14.5, chondrogenesis is delayed in the phalanges and metacarpals/tarsals
• in the proximal and middle phalanges, chondrocytes remain undifferentiated, do not align in columns and do not hypertrophy
• proliferation is reduced in nondifferentiating chondocytes and no proliferation of chondrocytes is seen where joints form
• joint cavitation is disturbed and joint formation is delayed or absent in the digits
• the metacarpophalangeal joint is fused in digit IV
• dyssymphyses of many cervical vertebrae
• the odontoid peg is not connected to the axis but fuses to the ventral inside of the atlas

limbs/digits/tail
• one phalanx is absent in each digit that is shortened and phalanges have an abnormal shape and abnormal joints between them (J:14105)
• at least one of the phalanges remaining is short and phalanges on digit 1 are shortened (J:14105)
• digits 2-5 are short on all four extremities (J:14105)
• 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)
• bony deposits in tissue behind calcaneus
• at 4 weeks of age, metacarpals are mildy shortened

craniofacial
• 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
• 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)
• width of the interparietal bone is decreased by 2%
• occipital foramen with peculiar wide indentation on the dorsal side
• have large stalactite bones on maxilla

Mouse Models of Human Disease
OMIM IDRef(s)
Brachydactyly, Type A1; BDA1 112500 J:97323