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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ccd
cleidocranial dysplasia
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+
ShhDsh/Shh+
involves: 101 * C3H * C57BL * C57BL/10Rl * SEC MGI:3583774


Genotype
MGI:2660660
hm1
Allelic
Composition
Ccd/Ccd
Genetic
Background
involves: 101 * C3H
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lethal near the time of implantation




Genotype
MGI:3583772
ht2
Allelic
Composition
Ccd/Ccd+
Genetic
Background
B10Rl.101-Ccd
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mostly on the right side though seen bilaterally and also on the left
• incomplete clavicles
• 18 of 31 show greatly indented anterior border of the scapula on the left side
• 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
• all have an ischium and pubis that do not connect on at least one side of the body
• tear- or comet-shaped hole between the frontals and parietals
• 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
• 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
• jagged edge at anterior end of nasals caused by absence of bone
• xiphisternum is 50-75% of the normal length, wider than normal, and is curved ventrally
• incomplete penetrance of dorsal dyssymphysis of the 9 most anterior vertebrae

craniofacial
• tear- or comet-shaped hole between the frontals and parietals
• 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
• 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
• jagged edge at anterior end of nasals caused by absence of bone

limbs/digits/tail
• mostly on the right side though seen bilaterally and also on the left

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

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

growth/size/body
• 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
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• partial or complete failure of ossification of cranial fontanelles
• partial or complete failure of ossification of clavicles
• partial or complete failure of ossification of symphysis pubis
• partial or complete failure of ossification of clavicles, symphysis pubis, and cranial fontanelles

craniofacial
• 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+
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 (45 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

growth/size/body
• jagged edge at anterior end of nasals caused by absence of bone

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





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory