Del(14Gjb6-Cryl1)1Lmon Cytogenetic Marker Detail

Summary

• Symbol
  Del(14Gjb6-Cryl1)1Lmon
• Name
  deletion, Chr 14, Lluis Montoliu

• Feature Type
  chromosomal deletion
• IDs
  MGI:7587715

Location &
Maps

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

• Genetic Map
  Chromosome 14, Syntenic

Human Diseases

• Diseases
  1 with Del(14Gjb6-Cryl1)1Lmon mouse models

Human Disease

Mouse Models

autosomal recessive nonsyndromic deafness 1A

IDs

autosomal recessive nonsyndromic deafness 1A      

DOID:0110475
ICD10CM:H90.3
OMIM:220290

View 1 model

Mouse Models

Human Disease Modeled: autosomal recessive nonsyndromic deafness 1A

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(14Gjb6-Cryl1)1Lmon/Del(14Gjb6-Cryl1)1Lmon	C57BL/6JOlaHsd-Del(14Gjb6-Cryl1)1Lmon/Lmon	J:345081	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
  6 phenotypes from 1 allele in 1 genetic background
  1 phenotype reference
  

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

Mice homozygous for the deletion recapitulates the phenotype of human DFNB1 hearing impairment.

References

• Summaries
  All 1

  Diseases 1

  Phenotypes 1
• Earliest
  J:345081 Dominguez-Ruiz M, et al., A Murine Model for the del(GJB6-D13S1830) Deletion Recapitulating the Phenotype of Human DFNB1 Hearing Impairment: Generation and Functional and Histopathological Study. 2024;