Phenotypes Associated with This Genotype

Genotype
MGI:3583772

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

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

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