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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
ShhDsh
short digits
MGI:1861186
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
ShhDsh/ShhDsh B10Rl.Cg-ShhDsh MGI:3583771
hm2
ShhDsh/ShhDsh involves: 101 * C3H * C57BL * SEC MGI:3583766
ht3
ShhDsh/Shh+ B10Rl.Cg-ShhDsh MGI:3583764
ht4
ShhDsh/Shh+ involves: 101 * C3H * C57BL * SEC MGI:3583762
ht5
ShhDsh/Shhtm1Chg involves: 101 * 129S1/Sv * 129X1/SvJ * C3H * C57BL/10Rl MGI:3583816
cx6
Ccd/Ccd+
ShhDsh/Shh+
involves: 101 * C3H * C57BL * C57BL/10Rl * SEC MGI:3583774


Genotype
MGI:3583771
hm1
Allelic
Composition
ShhDsh/ShhDsh
Genetic
Background
B10Rl.Cg-ShhDsh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ShhDsh mutation (0 available); any Shh mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: many die by E18.5, which is several days earlier than on the mixed background

limbs/digits/tail
• short-limbed dwarfs lacking forefeet and hindfeet

embryo

growth/size/body




Genotype
MGI:3583766
hm2
Allelic
Composition
ShhDsh/ShhDsh
Genetic
Background
involves: 101 * C3H * C57BL * SEC
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ShhDsh mutation (0 available); any Shh mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: some are alive at E16.5-18.5 but die soon after birth, unlike on the congenic C57BL/10Rl background in which many die by E18.5
• live until E12.5 and occasionally until E18.5 (J:14105)

limbs/digits/tail
• short-limbed dwarfs lacking forefeet and hindfeet (J:14105)

embryo
• small head and a long trunk (J:14105)

growth/size/body
• small head and a long trunk (J:14105)

hearing/vestibular/ear
• usually lack ears (J:14105)

craniofacial

reproductive system
• usually absent (J:14105)
(J:16170)
• usually absent (J:14105)
(J:16170)

vision/eye
• have a single eye that is hidden under the trunk
• usually lack eyes




Genotype
MGI:3583764
ht3
Allelic
Composition
ShhDsh/Shh+
Genetic
Background
B10Rl.Cg-ShhDsh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ShhDsh mutation (0 available); any Shh mutation (26 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Brachydactyly, Type A1; BDA1 112500 J:97323




Genotype
MGI:3583762
ht4
Allelic
Composition
ShhDsh/Shh+
Genetic
Background
involves: 101 * C3H * C57BL * SEC
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ShhDsh mutation (0 available); any Shh mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail




Genotype
MGI:3583816
ht5
Allelic
Composition
ShhDsh/Shhtm1Chg
Genetic
Background
involves: 101 * 129S1/Sv * 129X1/SvJ * C3H * C57BL/10Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
ShhDsh mutation (0 available); any Shh mutation (26 available)
Shhtm1Chg mutation (0 available); any Shh mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• have midline defects that are seen in the single homozygous Shh mutants

limbs/digits/tail
• have limb malformations that are nearly identical to that of single homozygous Shh mutants




Genotype
MGI:3583774
cx6
Allelic
Composition
Ccd/Ccd+
ShhDsh/Shh+
Genetic
Background
involves: 101 * C3H * C57BL * C57BL/10Rl * SEC
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccd mutation (0 available); any Ccd mutation (0 available)
ShhDsh mutation (0 available); any Shh mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 50% die before 8 weeks of age

skeleton
• very large, almost round, hole between the frontals and parietals and large hole between the parietals and interparietals
• the number of extra bones subdivided off between middle of parietals and interparietal bone is higher than in the single heterozygous ShhDsh mutant
• 9 of 11 show interparietal bone that is divided into 2 or more pieces and the width and length of the bone is decreased by 41% and 31%, respectively
• occipital foramen with peculiar wide indentation on the dorsal side
• absent or greatly reduced ventral branch of the posttympanic hook of the squamosal
• large gap between the jugal and squamosal bones making the orbit around the eye incomplete
• large (in 1 of 11), medium (in 5 of 11) and small (in 5 of 11) stalactite bones are seen on the maxilla
• jagged edge at anterior end of nasals caused by absence of bone
• mostly on the right side (in 7 of 11) though seen also bilaterally (in 2 of 11)
• incomplete clavicles
• 9 of 11 show greatly indented anterior border of the scapula on the left side
• xiphisternum is 50-75% of the normal length, wider than normal, and is curved ventrally
• 5 of 11 have one or more ischia that are crooked (bent laterally) and 10 of 11 have an ischium and pubis that do not connect on at least one side of the body
• 10 of 11 have an ischium and pubis that do not connect on at least one side of the body
• dorsal dyssymphysis of the 9 most anterior vertebrae
• most of the ventral tubercles of the atlas are unattached or weakly attached to the rest of the vertebra
• the odontoid peg is not connected to the axis but fuses to the ventral inside of the atlas

limbs/digits/tail
• all 2nd through 5th digits are short
• 5 of 11 have metatarsal-phalanx 1 fusion on digit 4
• mostly on the right side (in 7 of 11) though seen also bilaterally (in 2 of 11)
• bony deposits in tissue behind calcaneus

craniofacial
• very large, almost round, hole between the frontals and parietals and large hole between the parietals and interparietals
• the number of extra bones subdivided off between middle of parietals and interparietal bone is higher than in the single heterozygous ShhDsh mutant
• 9 of 11 show interparietal bone that is divided into 2 or more pieces and the width and length of the bone is decreased by 41% and 31%, respectively
• occipital foramen with peculiar wide indentation on the dorsal side
• absent or greatly reduced ventral branch of the posttympanic hook of the squamosal
• large gap between the jugal and squamosal bones making the orbit around the eye incomplete
• large (in 1 of 11), medium (in 5 of 11) and small (in 5 of 11) stalactite bones are seen on the maxilla
• jagged edge at anterior end of nasals caused by absence of bone

vision/eye
• large gap between the jugal and squamosal bones making the orbit around the eye incomplete





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory