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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mef2dtm1.2Tfur
targeted mutation 1.2, Takahisa Furukawa
MGI:5767098
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mef2dtm1.2Tfur/Mef2dtm1.2Tfur involves: 129S6/SvEvTac * C57BL/6 * SJL MGI:5775148
cx2
Crxtm1Clc/Crxtm1Clc
Mef2dtm1.2Tfur/Mef2dtm1.2Tfur
involves: 129S6/SvEvTac * C57BL/6 * SJL MGI:5775154


Genotype
MGI:5775148
hm1
Allelic
Composition
Mef2dtm1.2Tfur/Mef2dtm1.2Tfur
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mef2dtm1.2Tfur mutation (1 available); any Mef2d mutation (66 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• no obvious alterations in ONL thickness and cell numbers of bipolar, horizontal, ganglion, amacrine cells or Muller glial cells at P21
• normal array of the 9 + 0 microtubule doublets in transverse sections of the connecting cilium
• inner segments develop without severe defects at P21
• significantly reduced number of cone photoreceptor cells at P30
• significantly reduced number of rod photoreceptor cells at P30
• signal intensities of bipolar dendritic markers are reduced at P14
• synaptic ribbons and tips of bipolar dendrites are ectopically localized in the ONL at P21 and P30
• cone bipolar cell dendrites abnormally extend together with horizontal processes into the ONL
• synaptic ribbons and tips of horizontal processes are ectopically localized in the ONL at P21 and P30
• at P21, outer segments of both rod and cone photoreceptors are significantly shorter than wild-type
• however, the disk structure of outer segments remains normal
• outer segments of S- and M-cone photoreceptors are markdely shortened at both P14 and P30
• the length of M-cone photoreceptor outer segments is significantly shorter at P21
• outer segments of rod photoreceptors are shortened at both P14 and P30
• the length of rod photoreceptor outer segments is significantly shorter at P21
• progressive photoreceptor degeneration
• at P21, photoreceptor synaptic ribbons are frequently scattered into the ONL
• ectopic ribbons are more frequently found in the ONL at P30 than at P14 and P21
• ectopic ribbons often localize at the tip of bipolar cell dendrites and horizontal cell processes at P21 and P30
• at P21, EM revealed that a typical triad structure with bipolar dendritic tips is observed at low frequency
• decreased thickness of the ONL starting at P30
• ONL thickness reduced to 27% of that in wild-type controls at 6 months of age
• progressive degeneration of the ONL after P30, becoming severe at 6 months of age
• the number of photoreceptor synaptic ribbons is reduced and aberrant and irregularly shaped ribbons are frequently observed in the OPL at P14
• the numbers of both synaptic ribbons and synaptic puncta are significantly reduced in the OPL at P21
• markedly decreased amplitudes in a-waves under scotopic conditions at P30
• markedly decreased amplitudes in a-waves at high stimulus (0.5 and 1.0 log cd-s/m2) under photopic conditions at P30
• markedly decreased amplitude in b-wave under scotopic conditions at P30
• almost complete loss of b-wave amplitude at high stimulus (0 to 1.0 log cd-s/m2) under photopic conditions at P30

nervous system
• significantly reduced number of cone photoreceptor cells at P30
• significantly reduced number of rod photoreceptor cells at P30
• signal intensities of bipolar dendritic markers are reduced at P14
• synaptic ribbons and tips of bipolar dendrites are ectopically localized in the ONL at P21 and P30
• cone bipolar cell dendrites abnormally extend together with horizontal processes into the ONL
• synaptic ribbons and tips of horizontal processes are ectopically localized in the ONL at P21 and P30
• at P21, outer segments of both rod and cone photoreceptors are significantly shorter than wild-type
• however, the disk structure of outer segments remains normal
• outer segments of S- and M-cone photoreceptors are markdely shortened at both P14 and P30
• the length of M-cone photoreceptor outer segments is significantly shorter at P21
• outer segments of rod photoreceptors are shortened at both P14 and P30
• the length of rod photoreceptor outer segments is significantly shorter at P21
• progressive photoreceptor degeneration




Genotype
MGI:5775154
cx2
Allelic
Composition
Crxtm1Clc/Crxtm1Clc
Mef2dtm1.2Tfur/Mef2dtm1.2Tfur
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crxtm1Clc mutation (2 available); any Crx mutation (27 available)
Mef2dtm1.2Tfur mutation (1 available); any Mef2d mutation (66 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• severe impairment in bipolar cell maturation
• severe impairment in photoreceptor maturation
• complete loss of inner segment formation at P21
• more severe abnormality of synaptic morphology in the OPL than that seen in either single homozygote at P21

nervous system
• severe impairment in bipolar cell maturation
• severe impairment in photoreceptor maturation
• complete loss of inner segment formation at P21





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory