Del(2Nespas-Gnas)1Hju Cytogenetic Marker Detail

Summary

• Symbol
  Del(2Nespas-Gnas)1Hju
• Name
  deletion, Chr 2, Harald Juppner 1

• Feature Type
  chromosomal deletion
• IDs
  MGI:5587925

Location &
Maps

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

• Genetic Map
  Chromosome 2, Syntenic

Human Diseases

• Diseases
  1 with Del(2Nespas-Gnas)1Hju mouse models

Human Disease

Mouse Models

pseudohypoparathyroidism

IDs

pseudohypoparathyroidism      

DOID:4184
ICD10CM:E20.1
MESH:D011547
NCI:C99027
OMIM:612462
UMLS_CUI:C0033806

View 1 model

Mouse Models

Human Disease Modeled: pseudohypoparathyroidism

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(2Nespas-Gnas)1Hju/+	either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6J)	J:160293	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
  9 phenotypes from 1 allele in 1 genetic background
  2 phenotype references
  

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

References

• Summaries
  All 3

  Diseases 1

  Phenotypes 2
• Earliest
  J:160293 Frohlich LF, et al., Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proc Natl Acad Sci U S A. 2010 May 18;107(20):9275-80
• Latest
  J:183830 Fernandez-Rebollo E, et al., Loss of XLalphas (extra-large alphas) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6638-43