About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc16a2tm1Dgen
targeted mutation 1, Deltagen
MGI:3710233
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc16a2tm1Dgen/Slc16a2tm1Dgen either: (involves: C57BL/6N) or (involves: NMRI) MGI:3710594
ot2
Slc16a2tm1Dgen/Y either: (involves: C57BL/6N) or (involves: NMRI) MGI:3710595


Genotype
MGI:3710594
hm1
Allelic
Composition
Slc16a2tm1Dgen/Slc16a2tm1Dgen
Genetic
Background
either: (involves: C57BL/6N) or (involves: NMRI)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc16a2tm1Dgen mutation (0 available); any Slc16a2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• cerebellum and cerebrellum T4 content is reduced to 53% and 78%, respectively
• however, clearance from the blood and liver uptake is normal
• 34% reduction in serum T4 levels
• uptake of [125I]T3 in the brain is severely impaired
• cerebellum and cerebrellum T3 content is reduced to 61% and 66%, respectively
• however, clearance from the blood and liver uptake is normal
• 203% increase in serum T3 levels

nervous system
N
• unlike in human patients no reduction in brain size or brain morphology was observed




Genotype
MGI:3710595
ot2
Allelic
Composition
Slc16a2tm1Dgen/Y
Genetic
Background
either: (involves: C57BL/6N) or (involves: NMRI)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc16a2tm1Dgen mutation (0 available); any Slc16a2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• cerebellum and cerebrellum T4 content is reduced to 53% and 78%, respectively
• however, clearance from the blood and liver uptake is normal
• 34% reduction in serum T4 levels
• cerebellum and cerebrellum T3 content is reduced to 61% and 66%, respectively
• uptake of [125I]T3 in the brain is severely impaired
• however, clearance from the blood and liver uptake is normal
• 203% increase in serum T3 levels

nervous system
N
• unlike in human patients no reduction in brain size or brain morphology was observed

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Allan-Herndon-Dudley syndrome DOID:0050631 OMIM:300523
J:120737





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
06/12/2024
MGI 6.13
The Jackson Laboratory