srt Gene Detail

Summary

• Symbol
  srt
• Name
  shorty
• Synonyms
  line 104

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:2152541
• Alliance
  gene page

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 17, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with srt mouse models

Human Disease

Mouse Models

asphyxiating thoracic dystrophy

IDs

asphyxiating thoracic dystrophy      

DOID:0050592
ICD10CM:Q77.2
OMIM:PS208500
ORDO:474

View 1 model

Mouse Models

Human Disease Modeled: asphyxiating thoracic dystrophy

Allelic Composition	Genetic Background	Reference	Phenotypes
srt/srt	Not Specified	J:75360	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
  7 phenotypes from 1 allele in 1 genetic background
  2 phenotype references
  

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

Homozygotes for an ENU-induced mutation exhibit severe skeletal defects including shortened body axis, absence of proximal portions of the ribs causing reduction of chest cavity, abnormal vertebrae, cleft secondary palate, and perinatal lethality.

References

• Summaries
  All 2

  Diseases 1

  Phenotypes 2
• Earliest
  J:75360 Herron BJ, et al., Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet. 2002 Feb;30(2):185-9
• Latest
  J:285676 Suzuki A, et al., Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018 Apr;150:21-27