Phenotypes associated with this allele

• Allele Symbol: Lrwd1^tm1Kmcn
• Allele Name: targeted mutation 1, Kui Ming Chan
• Allele ID: MGI:7574465
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Lrwd1^tm1Kmcn/Lrwd1^+	Not Specified	MGI:7640061

Genotype
MGI:7640061

ht1

• Allelic Composition: Lrwd1^tm1Kmcn/Lrwd1⁺
• Genetic Background: Not Specified

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

growth/size/body

decreased body size ( J:326014 )

• both male and female mice show overall reduced body sizes (dwarfism) after birth

decreased body weight ( J:326014 )

• both male and female mice weigh less than wild-type and heterozygous controls from 4 weeks to 4 months of age

postnatal growth retardation ( J:326014 )

• mice exhibit delayed postnatal growth relative to controls

• however, no major developmental defects are observed

cellular

decreased fibroblast proliferation ( J:326014 )

• in vitro, primary mouse embryonic fibroblasts (MEFs) isolated from E13.5 homozygous embryos proliferate very slowly relative to wild-type cells

abnormal epigenetic regulation of gene expression ( J:326014 )

• primary MEFs exhibit increased expression of certain epigenetically silenced repetitive elements, showing a minimal increase in major satellite and LINE transcript levels (1.25- and 1.6-fold increase, respectively) along with a significant increase in SINE transcripts

• however, expression of protein coding genes is largely unaffected, with Tmem267 (aka Gm7120) found to be the only significantly upregulated gene in primary MEFs

abnormal DNA methylation ( J:326014 )

• primary MEFs exhibit slightly decreased H3K27me3 and H3K4me3 protein levels whereas H4K20me3 protein levels are significantly increased

• however, total H3K9me3 protein levels and ORC2 localization to pericentromeric heterochromatin (PCH) are unaffected, and distribution of PCH markers (HP1alpha, HP1beta, H3K9me3) is similar to that in wild-type MEFs