Yaa Cytogenetic Marker Detail

Summary

• Symbol
  Yaa
• Name
  accelerated autoimmunity and lymphoproliferation transposition
• Synonyms
  Tp(X;Y)1Ekw

• Feature Type
  chromosomal translocation
• IDs
  MGI:99140
  NCBI Gene: 107944

Location &
Maps

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

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

Human Diseases

• Diseases
  1 with Yaa mouse models

Human Disease

Mouse Models

systemic lupus erythematosus

IDs

systemic lupus erythematosus      

DOID:9074
EFO:0002690
ICD10CM:M32.9
ICD9CM:710.0
KEGG:05322
MESH:D008180
NCI:C3201
OMIM:152700
OMIM:300809
OMIM:605480
OMIM:608437
OMIM:609903
OMIM:609939
OMIM:610065
OMIM:610066
OMIM:612254
OMIM:612378
OMIM:613145
OMIM:614420
ORDO:536
UMLS_CUI:C0024141

View 5 models

Mouse Models

Human Disease Modeled: systemic lupus erythematosus

Allelic Composition	Genetic Background	Reference	Phenotypes
X/Yaa	BXSB/MpJ	J:6235 J:108760 J:7308	View
X/Yaa	BXSB/MpJScr	J:10973	View
X/Yaa	(NZB x BXSB)F1	J:6235	View
X/Yaa	(NZW x BXSB)F1	J:7276	View
X/Yaa	(NZW x SB)F1	J:7276	View

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Tlr7tm1Flv/Y X/Yaa	B6.Cg-Tlr7^tm1Flv Yaa	J:127600	View

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

• Mutations/Alleles
  1 with disease annotations

• References
  7 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  30 phenotypes from 1 allele in 10 genetic backgrounds
  45 phenotypes from multigenic genotypes
  2 images
  94 phenotype references
  

• All Mutations and Alleles
  1
• Spontaneous
  1
• Find Mice (IMSR)
  21 strains or lines available

Mutant males have accelerated autoimmunity, lymphoproliferation, splenomegaly, hemolytic anemia, hypergammaglobulinemia and glomerulonephritis. The syndrome is strain-dependent, requiring presence of certain autosomal allelic combinations.

Sequences &
Gene Models

• NCBI Gene
  107944

Other
Accession IDs

MGD-MRK-15837

References

• Summaries
  All 112

  Diseases 7

  Phenotypes 94
• Earliest
  J:6235 Murphy ED, et al., A Y chromosome associated factor in strain BXSB producing accelerated autoimmunity and lymphoproliferation. Arthritis Rheum. 1979 Nov;22(11):1188-94
• Latest
  J:324448 Brown GJ, et al., TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022;605(7909):349-356