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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Matn3tm1Mbri
targeted mutation 1, Michael Briggs
MGI:3759029
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Matn3tm1Mbri/Matn3tm1Mbri involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3759051
ht2
Matn3tm1Mbri/Matn3+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3759052


Genotype
MGI:3759051
hm1
Allelic
Composition
Matn3tm1Mbri/Matn3tm1Mbri
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Matn3tm1Mbri mutation (0 available); any Matn3 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• chondrocyte apoptosis in the hypertrophic zone is expanded beyond just the terminal hypertrophic chondrocytes at the vascular invasion front
• chondrocyte proliferation in the growth plate is reduced 16% compared to in wild-type mice
• authors state that the decreased length of the tibia inner cantal distance is representative of all bones measured (humerus, pelvis, femur and tibia)
• at day 14 tibias are 8.5% shorted and at day 21 tibias are 12.5% shorter than in wild-type mice
• 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
• at day 7, the proliferative zone becomes progressively dysplastic with disordered cellular organization and morphology
• the hypertrophic zone exhibits dysplasia
• chondrocyte apoptosis in the hypertrophic zone is expanded beyond just the terminal hypertrophic chondrocytes at the vascular invasion front
• 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
• at day 42 mice are 7.5% lighter and at day 63 they are 9.5% lighter than wild-type mice
• by day 14 mice develop short-limbed dwarfism

limbs/digits/tail
• at day 14 tibias are 8.5% shorted and at day 21 tibias are 12.5% shorter than in wild-type mice
• by day 14 mice develop short-limbed dwarfism

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




Genotype
MGI:3759052
ht2
Allelic
Composition
Matn3tm1Mbri/Matn3+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Matn3tm1Mbri mutation (0 available); any Matn3 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• some distension in the rough endoplasmic reticulum of chondrocytes in the growth plate is observed but it is not as severe as in homozygous mice
• some distension in the rough endoplasmic reticulum of chondrocytes in the growth plate is observed but it is not as severe as in homozygous mice





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