Phenotypes Associated with This Genotype

Genotype
MGI:3817313

• Allelic Composition: Dym^{Gt(GTR1.3)1Rul}/Dym^{Gt(GTR1.3)1Rul}
• Genetic Background: involves: 129

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

Dym^{Gt(GTR1.3)1Rul}/Dym^{Gt(GTR1.3)1Rul} mice display growth plate abnormalities

growth/size/body

malocclusion ( J:141099 )

• bite overclosure

decreased birth body size ( J:141099 )

• slightly smaller at birth

decreased body weight ( J:141099 )

• differences in body weight compared to controls become more pronounced with age

• at 12 months of age, mice are 75% of the size of controls

decreased body length ( J:141099 )

skeleton

abnormal limb bone morphology ( J:141099 )

• shortening of the tubular bones

short humerus ( J:141099 )

• length is reduced to 89% of wild-type

short femur ( J:141099 )

• length and width are reduced to 88% and 85% of wild-type, respectively

short tibia ( J:141099 )

• length is reduced to 89% of wild-type

abnormal long bone epiphyseal plate morphology ( J:141099 )

• appear somewhat hypocellula

abnormal long bone epiphyseal ossification zone morphology ( J:141099 )

• at 2 weeks of age secondary ossification centers are less well developed compared to wild-type littermates

abnormal long bone hypertrophic chondrocyte zone ( J:141099 )

• in some cases chondrocytes are arranged into clusters rather than stacked

decreased width of hypertrophic chondrocyte zone ( J:141099 )

• slightly narrower at 1 month of age

disorganized long bone epiphyseal plate ( J:141099 )

• by 6 months of age growth plates display disorganized patterns of ossification

• chondrocytes are disorganized and are surrounded by thicker ossified regions

• ossified regions contain many small islands of chondrocytes

abnormal axial skeleton morphology ( J:141099 )

decreased cranium length ( J:141099 )

• cranial length and width are reduced to 93% of wild-type

decreased cranium width ( J:141099 )

• cranial length and width are reduced to 93% of wild-type

small cranium ( J:141099 )

malocclusion ( J:141099 )

• bite overclosure

short ribs ( J:141099 )

• decreased rib cage volume

abnormal spine curvature ( J:141099 )

small vertebrae ( J:141099 )

• height is reduced to 89% of wild-type

abnormal chondrocyte morphology ( J:141099 )

• long bone chondrocytes contain large vacuoles, multiple smaller vesicles, and electron dense bodies, have less well developed Golgi, and appear to have dilation of the presumptive cisternae of the rough endoplasmic reticulum

renal/urinary system

hydronephrosis ( J:141099 )

• by 6 months of age, 35% of mice develop unilateral or bilateral hydronephrosis caused by a collagenous obstruction in the region where the ureter joins the kidney

ureter obstruction ( J:141099 )

• 35% of mice display a collagenous obstruction in the region where the ureter joins the kidney

cellular

abnormal intracellular organelle morphology ( J:141099 )

• primary MEFs contain large vacuoles, multiple smaller vesicles, and electron dense bodies, have less well developed Golgi, and appear to have dilation of the presumptive cisternae of the rough endoplasmic reticulum

abnormal vesicle-mediated transport ( J:141099 )

• primary MEFs display defects in vesicular transport

behavior/neurological

behavior/neurological phenotype ( J:141099 )

N • unlike human patients with Dyggve-Melchior-Clausen Disease, mice do not display any obvious signs of neurological impairment

craniofacial

decreased cranium length ( J:141099 )

• cranial length and width are reduced to 93% of wild-type

decreased cranium width ( J:141099 )

• cranial length and width are reduced to 93% of wild-type

small cranium ( J:141099 )

malocclusion ( J:141099 )

• bite overclosure

limbs/digits/tail

abnormal limb bone morphology ( J:141099 )

• shortening of the tubular bones

short humerus ( J:141099 )

• length is reduced to 89% of wild-type

short femur ( J:141099 )

• length and width are reduced to 88% and 85% of wild-type, respectively

short tibia ( J:141099 )

• length is reduced to 89% of wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-McCort dysplasia		DOID:0060247	OMIM:PS607326	J:141099