Phenotypes associated with this allele

• Allele Symbol: Ccd
• Allele Name: cleidocranial dysplasia
• Allele ID: MGI:1861187
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ccd/Ccd	involves: 101 * C3H	MGI:2660660
ht2	Ccd/Ccd^+	B10Rl.101-Ccd	MGI:3583772
ht3	Ccd/Ccd^+	involves: 101 * C3H	MGI:2660662
cx4	Ccd/Ccd^+ Shh^Dsh/Shh^+	involves: 101 * C3H * C57BL * C57BL/10Rl * SEC	MGI:3583774

Genotype
MGI:2660660

hm1

• Allelic Composition: Ccd/Ccd
• Genetic Background: involves: 101 * C3H

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

mortality/aging

preweaning lethality, complete penetrance ( J:14006 )

• recessive lethal

embryonic lethality, complete penetrance ( J:16170 )

• lethal near the time of implantation

Genotype
MGI:3583772

ht2

• Allelic Composition: Ccd/Ccd⁺
• Genetic Background: B10Rl.101-Ccd

skeleton

abnormal humerus morphology ( J:16170 )

absent deltoid tuberosity ( J:16170 )

• mostly on the right side though seen bilaterally and also on the left

abnormal pectoral girdle bone morphology ( J:16170 )

abnormal clavicle morphology ( J:16170 )

• incomplete clavicles

abnormal scapula morphology ( J:16170 )

• 18 of 31 show greatly indented anterior border of the scapula on the left side

abnormal pelvic girdle bone morphology ( J:16170 )

abnormal ischium morphology ( J:16170 )

• 17 of 31 have one or more ischia that are crooked (bent laterally) and all have an ischium and pubis that do not connect on at least one side of the body

abnormal pubis morphology ( J:16170 )

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

abnormal axial skeleton morphology ( J:16170 )

abnormal cranium morphology ( J:16170 )

abnormal neurocranium morphology ( J:16170 )

• tear- or comet-shaped hole between the frontals and parietals

abnormal interparietal bone morphology ( J:16170 )

• interparietal bone is divided into 2 or more pieces and the width and length is decreased by 23% and 16%, respectively

• 6 of 31 show interparietal-occipital fusion

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

absent nasal bone ( J:16170 )

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

abnormal xiphoid process morphology ( J:16170 )

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

abnormal vertebrae morphology ( J:16170 )

• incomplete penetrance of dorsal dyssymphysis of the 9 most anterior vertebrae

craniofacial

abnormal cranium morphology ( J:16170 )

abnormal neurocranium morphology ( J:16170 )

• tear- or comet-shaped hole between the frontals and parietals

abnormal interparietal bone morphology ( J:16170 )

• interparietal bone is divided into 2 or more pieces and the width and length is decreased by 23% and 16%, respectively

• 6 of 31 show interparietal-occipital fusion

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

absent nasal bone ( J:16170 )

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

limbs/digits/tail

abnormal humerus morphology ( J:16170 )

absent deltoid tuberosity ( J:16170 )

• mostly on the right side though seen bilaterally and also on the left

vision/eye

abnormal orbit morphology ( J:16170 )

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

respiratory system

absent nasal bone ( J:16170 )

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

growth/size/body

absent nasal bone ( J:16170 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleidocranial dysplasia		DOID:13994	OMIM:119600 OMIM:216330	J:16170

Genotype
MGI:2660662

ht3

• Allelic Composition: Ccd/Ccd⁺
• Genetic Background: involves: 101 * C3H

skeleton

abnormal fontanelle morphology ( J:14006 )

• partial or complete failure of ossification of cranial fontanelles

abnormal clavicle morphology ( J:14006 )

• partial or complete failure of ossification of clavicles

abnormal pubic symphysis morphology ( J:14006 )

• partial or complete failure of ossification of symphysis pubis

failure of bone ossification ( J:14006 )

• partial or complete failure of ossification of clavicles, symphysis pubis, and cranial fontanelles

craniofacial

abnormal fontanelle morphology ( J:14006 )

• partial or complete failure of ossification of cranial fontanelles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleidocranial dysplasia		DOID:13994	OMIM:119600 OMIM:216330	J:14006

Genotype
MGI:3583774

cx4

• 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