Phenotypes associated with this allele

• Allele Symbol: Dot1l^{tm1c(KOMP)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:5925348
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dot1l^tm1c(KOMP)Wtsi/Dot1l^tm1c(KOMP)Wtsi Tg(Col2a1-cre)1Bhr/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL	MGI:6284806

Genotype
MGI:6284806

cn1

• Allelic Composition: Dot1l^{tm1c(KOMP)Wtsi}/Dot1l^{tm1c(KOMP)Wtsi}; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL

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

growth/size/body

postnatal growth retardation ( J:246059 )

• at 4 weeks of age, mice exhibit severe growth retardation, as shown by skeletal staining and histology of the growth plate

• however, no skeletal abnormalities are observed

skeleton

abnormal long bone epiphyseal plate morphology ( J:246059 )

• TCF1 levels are increased in the growth plate, indicating Wnt pathway activation

• COLX (type X collagen) levels are increased in the growth plate with no apparent changes in MMP-13 (matrix metallopeptidase 13) levels

abnormal long bone epiphyseal plate proliferative zone ( J:246059 )

• histology of the growth plates revealed a reduced and disorganized proliferative and prehypertrophic zone at 4 weeks of age

abnormal articular cartilage morphology ( J:246059 )

• TCF1 levels are increased in articular cartilage, indicating Wnt pathway activation

• COLX and MMP-13 levels appear to be increased in articular cartilage, indicating accelerated chondrocyte hypertrophy