Phenotypes Associated with This Genotype

Genotype
MGI:3759051

• Allelic Composition: Matn3^tm1Mbri/Matn3^tm1Mbri
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

skeleton

increased chondrocyte apoptosis ( J:125104 )

• chondrocyte apoptosis in the hypertrophic zone is expanded beyond just the terminal hypertrophic chondrocytes at the vascular invasion front

decreased chondrocyte proliferation ( J:125104 )

• chondrocyte proliferation in the growth plate is reduced 16% compared to in wild-type mice

abnormal long bone morphology ( J:125104 )

• authors state that the decreased length of the tibia inner cantal distance is representative of all bones measured (humerus, pelvis, femur and tibia)

short tibia ( J:125104 )

• at day 14 tibias are 8.5% shorted and at day 21 tibias are 12.5% shorter than in wild-type mice

abnormal long bone epiphyseal plate morphology ( J:125104 )

• the collagen network in the growth plate, especially in the pre-hypertrophic zone, is more uniform and visible than in wild-type mice

• chondrocyte proliferation in the growth plate is reduced 16% compared to in wild-type mice

• chondrocytes in the resting zone and growth plate contain dilated rough endoplasmic reticulum (rER) cisternae, due to the accumulation of the mutant protein, that gradually become larger disrupting the alignment of chondrocytes

abnormal long bone epiphyseal plate proliferative zone ( J:125104 )

• at day 7, the proliferative zone becomes progressively dysplastic with disordered cellular organization and morphology

abnormal long bone hypertrophic chondrocyte zone ( J:125104 )

• the hypertrophic zone exhibits dysplasia

• chondrocyte apoptosis in the hypertrophic zone is expanded beyond just the terminal hypertrophic chondrocytes at the vascular invasion front

abnormal chondrocyte morphology ( J:125104 )

• chondrocytes in the resting zone and growth plate contain dilated rough endoplasmic reticulum (rER) cisternae, due to the accumulation of the mutant protein, that gradually become larger disrupting the alignment of chondrocytes

• chondrocyte rER volume is increased 9-fold compared to in wild-type mice

growth/size/body

decreased body weight ( J:125104 )

• at day 42 mice are 7.5% lighter and at day 63 they are 9.5% lighter than wild-type mice

disproportionate dwarf ( J:125104 )

• by day 14 mice develop short-limbed dwarfism

limbs/digits/tail

short tibia ( J:125104 )

• at day 14 tibias are 8.5% shorted and at day 21 tibias are 12.5% shorter than in wild-type mice

short limbs ( J:125104 )

• by day 14 mice develop short-limbed dwarfism

cellular

increased chondrocyte apoptosis ( J:125104 )

• chondrocyte apoptosis in the hypertrophic zone is expanded beyond just the terminal hypertrophic chondrocytes at the vascular invasion front

decreased chondrocyte proliferation ( J:125104 )

• chondrocyte proliferation in the growth plate is reduced 16% compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple epiphyseal dysplasia 5		DOID:0070299	OMIM:607078	J:125104