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Phenotypes Associated with This Genotype
Genotype
MGI:5292357
Allelic
Composition
Fmr1tm1.2Cidz/Y
Genetic
Background
involves: 129P2/OlaHsd * 129/Sv * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1.2Cidz mutation (0 available); any Fmr1 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mutants show a lower AMPA to NMDA glutamate receptor ratio in hippocampal CA1 pyramidal neurons at 2 weeks of age, but not at 6-7 weeks of age
• mutants show a lower AMPA to NMDA current ratio in hippocampal CA1 neurons at 2 weeks of age, but not at 6-7 weeks of age, indicating that glutamatergic neuerotransmission at synapses of hippocampal CA1 pyramidal neurons is altered during early postnatal development but not in adulthood
• induction of NMDA receptor-dependent long-term potentiation following a low-frequency pairing protocol, but not theta-burst pairing protocol, is increased at 2 weeks of age but not in adulthood
• however, presynaptic paired-pulse potentiation in the hippocampal CA1 neurons and intrinsic postsynaptic excitability are unchanged in mutants and no differences in short- and long-term depression are seen
• miniature currents are altered in mutants; AMPA mEPSCs are reduced in amplitude but not in frequency while NMDA mEPSCs are increased in amplitude

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:176553


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)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory