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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tlcd3bem1(IMPC)Bay
endonuclease-mediated mutation 1, Baylor College of Medicine
MGI:6257762
Summary 2 genotypes


Genotype
MGI:7277808
hm1
Allelic
Composition
Tlcd3bem1(IMPC)Bay/Tlcd3bem1(IMPC)Bay
Genetic
Background
C57BL/6NJ-Tlcd3bem1(IMPC)Bay/Mmnc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tlcd3bem1(IMPC)Bay mutation (1 available); any Tlcd3b mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• number of cones is reduced in the inner and outer segment, with 30% loss of cones in the retina, and significant loss in the dorsotemporal, ventronasal, and ventrotemporal areas
• however, no changes are seen in cell number or morphology of rod-bipolar cells
• 20% reduction in the outer nuclear layer (ONL) thickness and number of nuclei at 7 months of age
• however, thinning of the inner nuclear layer is insignificant
• ERG shows reduced scotopic and photopic b-wave amplitude in 7-month-old mice
• 25% reduction in scotopic b-wave amplitude at maximum stimulus intensity
• 40% reduction in photopic b-wave amplitude at maximum stimulus, indicating dysfunctional cones
• however, scotopic a-wave ERGs show a normal response of rod photoreceptors, indicating largely normal rod photoreceptor activity
• 40% reduction in photopic b-wave amplitude at maximum stimulus, indicating dysfunctional cones

nervous system
• number of cones is reduced in the inner and outer segment, with 30% loss of cones in the retina, and significant loss in the dorsotemporal, ventronasal, and ventrotemporal areas
• however, no changes are seen in cell number or morphology of rod-bipolar cells

reproductive system
N
• males are fertile

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cone-rod dystrophy DOID:0050572 J:307901




Genotype
MGI:6461743
hm2
Allelic
Composition
Tlcd3bem1(IMPC)Bay/Tlcd3bem1(IMPC)Bay
Genetic
Background
C57BL/6N-Tlcd3bem1(IMPC)Bay/BayMmucd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tlcd3bem1(IMPC)Bay mutation (1 available); any Tlcd3b mutation (18 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological

growth/size/body

nervous system

vision/eye





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