Phenotypes associated with this allele

• Allele Symbol: Shh^Dsh
• Allele Name: short digits
• Allele ID: MGI:1861186
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Shh^Dsh/Shh^Dsh	B10Rl.Cg-Shh^Dsh	MGI:3583771
hm2	Shh^Dsh/Shh^Dsh	involves: 101 * C3H * C57BL * SEC	MGI:3583766
ht3	Shh^Dsh/Shh^+	B10Rl.Cg-Shh^Dsh	MGI:3583764
ht4	Shh^Dsh/Shh^+	involves: 101 * C3H * C57BL * SEC	MGI:3583762
ht5	Shh^Dsh/Shh^tm1Chg	involves: 101 * 129S1/Sv * 129X1/SvJ * C3H * C57BL/10Rl	MGI:3583816
cx6	Ccd/Ccd^+ Shh^Dsh/Shh^+	involves: 101 * C3H * C57BL * C57BL/10Rl * SEC	MGI:3583774

Genotype
MGI:3583771

hm1

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

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:16170 )

• Background Sensitivity: many die by E18.5, which is several days earlier than on the mixed background

limbs/digits/tail

short limbs ( J:16170 )

• short-limbed dwarfs lacking forefeet and hindfeet

embryo

decreased embryo size ( J:16170 )

growth/size/body

decreased embryo size ( J:16170 )

Genotype
MGI:3583766

hm2

• Allelic Composition: Shh^Dsh/Shh^Dsh
• Genetic Background: involves: 101 * C3H * C57BL * SEC

mortality/aging

neonatal lethality, complete penetrance ( J:16170 )

• 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

embryonic lethality during organogenesis, incomplete penetrance ( J:14105 , J:16170 )

• live until E12.5 and occasionally until E18.5 (J:14105)

limbs/digits/tail

brachydactyly ( J:16170 )

short limbs ( J:14105 , J:16170 )

• short-limbed dwarfs lacking forefeet and hindfeet (J:14105)

embryo

abnormal embryo size ( J:14105 , J:16170 )

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

growth/size/body

absent mouth ( J:14105 , J:16170 )

abnormal embryo size ( J:14105 , J:16170 )

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

microcephaly ( J:14105 , J:16170 )

hearing/vestibular/ear

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

• usually lack ears (J:14105)

craniofacial

absent mouth ( J:14105 , J:16170 )

reproductive system

absent external female genitalia ( J:14105 , J:16170 )

♀ • usually absent (J:14105)

♀ (J:16170)

absent external male genitalia ( J:14105 , J:16170 )

♂ • usually absent (J:14105)

♂ (J:16170)

vision/eye

cyclopia ( J:16170 )

• have a single eye that is hidden under the trunk

anophthalmia ( J:14105 )

• usually lack eyes

Genotype
MGI:3583764

ht3

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

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

Genotype
MGI:3583762

ht4

• Allelic Composition: Shh^Dsh/Shh⁺
• Genetic Background: involves: 101 * C3H * C57BL * SEC

limbs/digits/tail

brachydactyly ( J:14105 )

Genotype
MGI:3583816

ht5

• Allelic Composition: Shh^Dsh/Shh^tm1Chg
• Genetic Background: involves: 101 * 129S1/Sv * 129X1/SvJ * C3H * C57BL/10Rl

embryo

abnormal dorsal-ventral axis patterning ( J:97323 )

• have midline defects that are seen in the single homozygous Shh mutants

limbs/digits/tail

abnormal limb morphology ( J:97323 )

• have limb malformations that are nearly identical to that of single homozygous Shh mutants

Genotype
MGI:3583774

cx6

• Allelic Composition: Ccd/Ccd⁺; Shh^Dsh/Shh⁺
• Genetic Background: involves: 101 * C3H * C57BL * C57BL/10Rl * SEC

mortality/aging

premature death ( J:16170 )

• about 50% die before 8 weeks of age

skeleton

abnormal cranium morphology ( J:16170 )

abnormal neurocranium morphology ( J:16170 )

• 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 Shh^Dsh mutant

abnormal interparietal bone morphology ( J:16170 )

• 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 bone foramen ( J:16170 )

• occipital foramen with peculiar wide indentation on the dorsal side

abnormal temporal bone squamous part morphology ( J:16170 )

• absent or greatly reduced ventral branch of the posttympanic hook of the squamosal

abnormal orbit morphology ( J:16170 )

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

abnormal maxilla morphology ( J:16170 )

• large (in 1 of 11), medium (in 5 of 11) and small (in 5 of 11) stalactite bones are seen on the maxilla

absent nasal bone ( J:16170 )

• jagged edge at anterior end of nasals caused by absence of bone

abnormal humerus morphology ( J:16170 )

absent deltoid tuberosity ( J:16170 )

• mostly on the right side (in 7 of 11) though seen also bilaterally (in 2 of 11)

abnormal pectoral girdle bone morphology ( J:16170 )

abnormal clavicle morphology ( J:16170 )

• incomplete clavicles

abnormal scapula morphology ( J:16170 )

• 9 of 11 show greatly indented anterior border of the scapula on the left side

abnormal xiphoid process morphology ( J:16170 )

• xiphisternum is 50-75% of the normal length, wider than normal, and is curved ventrally

abnormal pelvic girdle bone morphology ( J:16170 )

abnormal ischium morphology ( J:16170 )

• 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

abnormal pubis morphology ( J:16170 )

• 10 of 11 have an ischium and pubis that do not connect on at least one side of the body

abnormal vertebrae morphology ( J:16170 )

• dorsal dyssymphysis of the 9 most anterior vertebrae

abnormal ventral tubercle of atlas morphology ( J:16170 )

• most of the ventral tubercles of the atlas are unattached or weakly attached to the rest of the vertebra

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

brachydactyly ( J:16170 )

• all 2nd through 5th digits are short

syndactyly ( J:16170 )

• 5 of 11 have metatarsal-phalanx 1 fusion on digit 4

abnormal humerus morphology ( J:16170 )

absent deltoid tuberosity ( J:16170 )

• mostly on the right side (in 7 of 11) though seen also bilaterally (in 2 of 11)

abnormal hindlimb morphology ( J:16170 )

• bony deposits in tissue behind calcaneus

craniofacial

abnormal cranium morphology ( J:16170 )

abnormal neurocranium morphology ( J:16170 )

• 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 Shh^Dsh mutant

abnormal interparietal bone morphology ( J:16170 )

• 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 bone foramen ( J:16170 )

• occipital foramen with peculiar wide indentation on the dorsal side

abnormal temporal bone squamous part morphology ( J:16170 )

• absent or greatly reduced ventral branch of the posttympanic hook of the squamosal

abnormal orbit morphology ( J:16170 )

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

abnormal maxilla morphology ( J:16170 )

• large (in 1 of 11), medium (in 5 of 11) and small (in 5 of 11) stalactite bones are seen on the maxilla

absent nasal bone ( J:16170 )

• jagged edge at anterior end of nasals caused by absence of bone

vision/eye

abnormal orbit morphology ( J:16170 )

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

growth/size/body

absent nasal bone ( J:16170 )

• jagged edge at anterior end of nasals caused by absence of bone

respiratory system

absent nasal bone ( J:16170 )

• jagged edge at anterior end of nasals caused by absence of bone