Two non-overlapping homozygous deletions adjacent to the BRINP3 gene that overlapped with non-coding epigenetic marks were identified in unrelated ASD probands born to consanguineous families from the HMCA cohort (Schmitz-Abe et al., 2020). Brinp3 -/- mice had previously been shown to exhibit marked changes in anxiety-response on the elevated plus maze and evidence of altered sociability (Berkowicz et al., 2016).
Molecular Function
Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Promotes pituitary gonadotrope cell proliferation, migration and invasion, when overexpressed. May play a role in cell pituitary tumor development.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
BRINP3 KO mice show no change in viability, no change in Mendelian ratios at birth, decreased body weight, normal gross morphology, increased anxiety, no change in prepulse impulse and senosorimotor gating, no change in short term spatial memory, increased exploratory behavior, decreased social approach, and no change in locomotion.
References
Type
Title
Author, Year
Primary
Mice Lacking Brinp2 or Brinp3, or Both, Exhibit Behaviors Consistent with Neurodevelopmental Disorders
Model Type:
Genetic LOF
Model Genotype:
Homozygous
Mutation:
Using bacsrp23-146n23/rp23-301j4 as the source of brinp3 dna, a neomycin transcriptional unit flanked by frt sites was inserted into intron 3 and loxp sites were included in introns 2 and 3. global tg(cmv-cre)1cgn cre-recombinase mediated deletion of exon3 resulted in a frame shift, creating a stop codon in exon 4 (mgi:5604619). the mutant protein is 44 amino acids with functional domains.
Allele Type: Knockout
Strain of Origin: BALB/c*C57BL/6
Genetic Background: C57BL/6
ES Cell Line: NA
Mutant ES Cell Line: Bruce4 C57BL/6-derived embryonicstem (ES) cells
Model Source: 27826231
