Del(13Simc1-B4galt7)2Dja Cytogenetic Marker Detail

Summary

• Symbol
  Del(13Simc1-B4galt7)2Dja
• Name
  deletion, Chr 13, David J Adams 2

• Feature Type
  chromosomal deletion
• IDs
  MGI:5451180

Location &
Maps

• Sequence Map
  Chr13:54651592-55758256 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 13, Syntenic

Human Diseases

• Diseases
  1 with Del(13Simc1-B4galt7)2Dja mouse models

Human Disease

Mouse Models

Sotos syndrome

IDs

Sotos syndrome      

DOID:14748
ICD10CM:Q87.3
MESH:D058495
NCI:C75019
OMIM:PS117550
ORDO:821
UMLS_CUI:C0175695

View 1 model

Mouse Models

Human Disease Modeled: Sotos syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(13Simc1-B4galt7)2Dja/+	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J	J:190741	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  11 phenotypes from 1 allele in 4 genetic backgrounds
  1 images
  1 phenotype reference
  

• All Mutations and Alleles
  1
• Targeted
  1
• Find Mice (IMSR)
  0 strains or lines available

Mice heterozygous for the deletion exhibit reduced fetal and postnatal growth with decreased lean body mass, impaired habituation to a novel odor and dilation of kidney calyx.

References

• Summaries
  All 2

  Diseases 1

  Phenotypes 1
• Earliest
  J:190741 Migdalska AM, et al., Generation of the Sotos syndrome deletion in mice. Mamm Genome. 2012 Dec;23(11-12):749-57