Phenotypes associated with this allele

• Allele Symbol: Frmd7^{tm1b(KOMP)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:6489960
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Frmd7^tm1b(KOMP)Wtsi/Frmd7^tm1b(KOMP)Wtsi	involves: C57BL/6 * C57BL/6N	MGI:6491489
ot2	Frmd7^tm1b(KOMP)Wtsi/Y	involves: C57BL/6 * C57BL/6N	MGI:6491490

Genotype
MGI:6491489

hm1

• Allelic Composition: Frmd7^{tm1b(KOMP)Wtsi}/Frmd7^{tm1b(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N

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

behavior/neurological

abnormal optokinetic reflex ( J:299010 )

♀ • mice lack an optokinetic reflex in the horizontal direction during eye-tracking recordings

vision/eye

vision/eye phenotype ( J:299010 )

♀N • electroretinography on dark adapted mice show no differences in the average ERG wave (both A-wave and B-wave) and normal average amplitudes and times of the A- and B-wave at P120

♀N • optical coherence tomography scans show normal retinal morphology at P120, with normal thickness of the various retinal layers

♀N • mice show no spontaneous oscillatory eye movements (nystagmus)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital nystagmus 1		DOID:0111790	OMIM:310700	J:299010

Genotype
MGI:6491490

ot2

• Allelic Composition: Frmd7^{tm1b(KOMP)Wtsi}/Y
• Genetic Background: involves: C57BL/6 * C57BL/6N

behavior/neurological

abnormal optokinetic reflex ( J:299010 )

♂ • mice lack an optokinetic reflex in the horizontal direction during eye-tracking recordings

♂ • however, mice show no spontaneous oscillatory eye movements (nystagmus)

vision/eye

vision/eye phenotype ( J:299010 )

♂N • electroretinography on dark adapted mice show no differences in the average ERG wave (both A-wave and B-wave) and normal average amplitudes and times of the A- and B-wave at P120

♂N • optical coherence tomography scans show normal retinal morphology at P120, with normal thickness of the various retinal layers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital nystagmus 1		DOID:0111790	OMIM:310700	J:299010