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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Emc1em1Xjz
endonuclease-mediated mutation 1, Xianjun Zhu
MGI:7611969
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Emc1em1Xjz/Emc1em1Xjz
Tg(Rho-icre)1Ck/0 		involves: C57BL/6 * C57BL/6J * SJL MGI:7611972
cn2
 		Emc1em1Xjz/Emc1em1Xjz
Tg(OPN1LW-cre)4Yzl/0 		involves: C57BL/6J * FVB/N MGI:7611971


Genotype
MGI:7611972
cn1
Allelic
Composition		 Emc1em1Xjz/Emc1em1Xjz
Tg(Rho-icre)1Ck/0
Genetic
Background		 involves: C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emc1em1Xjz mutation (0 available); any Emc1 mutation (55 available)
Tg(Rho-icre)1Ck mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
increased retina apoptosis ( J:345827 )
• at 2 months of age mainly in the outer nuclear layer
thin retina outer nuclear layer ( J:345827 )
• at 2 months of age
abnormal retina photoreceptor layer morphology ( J:345827 )
• decreased thickness of the photoreceptor segment at 2 months of age
abnormal photoreceptor outer segment morphology ( J:345827 )
• mislocalized rhodopsin at 2 months of age
short photoreceptor outer segment ( J:345827 )
• at 2 months of age
photoreceptor outer segment degeneration ( J:345827 )
• most signs of degeneration at 2 months of age are seen in the outer segments
retina photoreceptor degeneration ( J:345827 )
• progressive degeneration with almost complete loss at 3.5 months of age
decreased a-wave amplitude ( J:345827 )
• at both the 3.0 and 10.0 cd s*m-2 flash intensity
decreased b-wave amplitude ( J:345827 )
• at both the 3.0 and 10.0 cd s*m-2 flash intensity
abnormal rod electrophysiology ( J:345827 )
• reduced scotopic response with both the amplitude of the a-wave and b-wave reduced at both the 3.0 and 10.0 cd s*m-2 flash intensity

nervous system
abnormal photoreceptor outer segment morphology ( J:345827 )
• mislocalized rhodopsin at 2 months of age
short photoreceptor outer segment ( J:345827 )
• at 2 months of age
photoreceptor outer segment degeneration ( J:345827 )
• most signs of degeneration at 2 months of age are seen in the outer segments
retina photoreceptor degeneration ( J:345827 )
• progressive degeneration with almost complete loss at 3.5 months of age

cellular
increased retina apoptosis ( J:345827 )
• at 2 months of age mainly in the outer nuclear layer




Genotype
MGI:7611971
cn2
Allelic
Composition		 Emc1em1Xjz/Emc1em1Xjz
Tg(OPN1LW-cre)4Yzl/0
Genetic
Background		 involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emc1em1Xjz mutation (0 available); any Emc1 mutation (55 available)
Tg(OPN1LW-cre)4Yzl mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal retina cone cell morphology ( J:345827 )
• at P25 cones appear curled with disordered arrangement
decreased retina cone cell number ( J:345827 )
• only a small residual number of cones are present at 2 months of age

nervous system
abnormal retina cone cell morphology ( J:345827 )
• at P25 cones appear curled with disordered arrangement
decreased retina cone cell number ( J:345827 )
• only a small residual number of cones are present at 2 months of age




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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
05/07/2024
MGI 6.23 		The Jackson Laboratory