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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Spata7tm1Mrd
targeted mutation 1, Graeme Mardon
MGI:5660490
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Spata7tm1Mrd/Spata7tm1Mrd involves: 129S7/SvEvBrd MGI:5660492
hm2
 		Spata7tm1Mrd/Spata7tm1Mrd involves: 129S7/SvEvBrd * C57BL/6J MGI:6386193
cn3
 		Spata7tm1Mrd/Spata7tm2Mrd
Tg(Crx-cre)1Tfur/0 		involves: 129S7/SvEvBrd MGI:6386739
cn4
 		Spata7tm1Mrd/Spata7tm2Mrd
Tg(BEST1-cre)1Jdun/0 		involves: 129S7/SvEvBrd * C57BL/6 MGI:6386740
cx5
 		Cep290rd16/Cep290+
Spata7tm1Mrd/Spata7tm1Mrd 		involves: 129S7/SvEvBrd * BXD24/TyJ * C57BL/6J MGI:6386196


Genotype
MGI:5660492
hm1
Allelic
Composition		 Spata7tm1Mrd/Spata7tm1Mrd
Genetic
Background		 involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spata7tm1Mrd mutation (1 available); any Spata7 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal retina cone cell morphology ( J:216279 )
• disorganized at P40
abnormal retina rod cell morphology ( J:216279 )
• disorganized at P40
retina cone cell degeneration ( J:216279 )
• substantially slower rate of degeneration than in rods
thin retina outer nuclear layer ( J:216279 )
• by P15 with a further reduction by P29 to 50% of wild-type thickness
• at 6 months of age the ONL is 30-40% of wild-type thickness
abnormal cone electrophysiology ( J:216279 )
• a slight age-dependent decrease in the double-flash B-wave
abnormal rod electrophysiology ( J:216279 )
• decline in scotopic A-wave amplitude by P15 that becomes more pronounced with age
• by P60 the A-wave amplitude is only 20% that of wild-type controls
• decline in the scotopic B-wave amplitude is first detected at about 2 months of age
• the A-wave amplitude is almost undetectable at 12 months of age

nervous system
abnormal retina cone cell morphology ( J:216279 )
• disorganized at P40
abnormal retina rod cell morphology ( J:216279 )
• disorganized at P40
retina cone cell degeneration ( J:216279 )
• substantially slower rate of degeneration than in rods

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 3 DOID:0110331 OMIM:604232
 J:216279




Genotype
MGI:6386193
hm2
Allelic
Composition		 Spata7tm1Mrd/Spata7tm1Mrd
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spata7tm1Mrd mutation (1 available); any Spata7 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal photoreceptor connecting cilium morphology ( J:264617 )
• fragile microtubule core of photoreceptors that exhibit unraveling and flattening of microtubule doublets in the distal connecting cilium

nervous system
abnormal photoreceptor connecting cilium morphology ( J:264617 )
• fragile microtubule core of photoreceptors that exhibit unraveling and flattening of microtubule doublets in the distal connecting cilium

vision/eye
abnormal photoreceptor connecting cilium morphology ( J:264617 )
• fragile microtubule core of photoreceptors that exhibit unraveling and flattening of microtubule doublets in the distal connecting cilium




Genotype
MGI:6386739
cn3
Allelic
Composition		 Spata7tm1Mrd/Spata7tm2Mrd
Tg(Crx-cre)1Tfur/0
Genetic
Background		 involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spata7tm1Mrd mutation (1 available); any Spata7 mutation (27 available)
Spata7tm2Mrd mutation (0 available); any Spata7 mutation (27 available)
Tg(Crx-cre)1Tfur mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
retina photoreceptor degeneration ( J:279827 )
• progressive degeneration that is significant at P28 that is not as pronounced as in Spata7tm2Mrd homozygotes
thin retina outer nuclear layer ( J:279827 )
• 30% reduction at P28
• 8 rows at 4 months compared with 13 in control mice
• 4 rows at 7 months compared with 13 in control mice
abnormal cone electrophysiology ( J:279827 )
• reduced b-wave at P28 and 4 months
abnormal rod electrophysiology ( J:279827 )
• reduced a-wave at P28
• reduced a-wave and b-wave at 4 months

nervous system
retina photoreceptor degeneration ( J:279827 )
• progressive degeneration that is significant at P28 that is not as pronounced as in Spata7tm2Mrd homozygotes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 3 DOID:0110331 OMIM:604232
 J:279827




Genotype
MGI:6386740
cn4
Allelic
Composition		 Spata7tm1Mrd/Spata7tm2Mrd
Tg(BEST1-cre)1Jdun/0
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spata7tm1Mrd mutation (1 available); any Spata7 mutation (27 available)
Spata7tm2Mrd mutation (0 available); any Spata7 mutation (27 available)
Tg(BEST1-cre)1Jdun mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
vision/eye phenotype ( J:279827 )
N
• mice exhibit normal retinal morphology with no signs of photoreceptor degeneration




Genotype
MGI:6386196
cx5
Allelic
Composition		 Cep290rd16/Cep290+
Spata7tm1Mrd/Spata7tm1Mrd
Genetic
Background		 involves: 129S7/SvEvBrd * BXD24/TyJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290rd16 mutation (2 available); any Cep290 mutation (126 available)
Spata7tm1Mrd mutation (1 available); any Spata7 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
retina photoreceptor degeneration ( J:264617 )
• severe as early as P20 that is more severe than in Spata7tm1Mrd homozygotes

vision/eye
retina photoreceptor degeneration ( J:264617 )
• severe as early as P20 that is more severe than in Spata7tm1Mrd homozygotes




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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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory