Phenotypes associated with this allele

• Allele Symbol: Fmr1^tm1Rbd
• Allele Name: targeted mutation 1, Robert B Darnell
• Allele ID: MGI:3840615
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Fmr1^tm1Rbd/Y	B6.129-Fmr1^tm1Rbd	MGI:4415714
ot2	Fmr1^tm1Rbd/Y	FVB.129-Fmr1^tm1Rbd	MGI:4415713

Genotype
MGI:4415714

ot1

• Allelic Composition: Fmr1^tm1Rbd/Y
• Genetic Background: B6.129-Fmr1^tm1Rbd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

increased exploration in new environment ( J:155593 )

♂ • increased exploratory behavior

♂ • travel a greater total distance in the open field compared with their wild type littermates

decreased anxiety-related response ( J:155593 )

♂ • travel a greater proportion in the center of the open field

♂ • a greater number of light-dark transitions than their wild type littermates

♂ • no significant difference for the total time spent in the dark

decreased startle reflex ( J:155593 )

♂ • lower acoustic startle compared to their wild type littermates

♂ • no significant difference in prepulse inhibition (PPI) responses

increased locomotor activity ( J:155593 )

♂ • increased locomotor activity

♂ • travel a greater total distance in the open field compared with their wild type littermates

increased stereotypic behavior ( J:155593 )

♂ • increased repetitive/perseverative responses

♂ • bury significantly more marbles than their wild type littermates

increased thermal nociceptive threshold ( J:155593 )

♂ • greater latency to hindlimb response in hotplate than wild type mice (p=0.076)

audiogenic seizures ( J:155593 )

♂ • increased audiogenic seizure susceptibility

♂ • 18% of the 2-3 month old mice have audiogenic seizures, versus none in wild-type littermates

nervous system

audiogenic seizures ( J:155593 )

♂ • increased audiogenic seizure susceptibility

♂ • 18% of the 2-3 month old mice have audiogenic seizures, versus none in wild-type littermates

abnormal long-term depression ( J:155593 )

♂ • metabotropic glutamate receptor-dependent long term depression (mGluR-LTD) in hippocampal CA1 neurons is enhanced in the presence of anisomycin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
fragile X syndrome		DOID:14261	OMIM:300624	J:155593

Genotype
MGI:4415713

ot2

• Allelic Composition: Fmr1^tm1Rbd/Y
• Genetic Background: FVB.129-Fmr1^tm1Rbd

endocrine/exocrine glands

increased testis weight ( J:155593 )

♂ • increased testis weight (12-28%)

♂ • the most pronounced differences are evident in older animals (>5months)

♂ • no significant difference in body weights

reproductive system

increased testis weight ( J:155593 )

♂ • increased testis weight (12-28%)

♂ • the most pronounced differences are evident in older animals (>5months)

♂ • no significant difference in body weights