About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cln8mnd
motor neuron degeneration
MGI:1856959
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cln8mnd/Cln8mnd AK.B6(Cg)-Cln8mnd MGI:3588732
hm2
Cln8mnd/Cln8mnd B6.KB2/Rn-Cln8mnd MGI:2388398
hm3
Cln8mnd/Cln8mnd involves: AKR/J * B6.KB2 MGI:2388401
hm4
Cln8mnd/Cln8mnd involves: B6.KB2 MGI:3810164
hm5
Cln8mnd/Cln8mnd involves: B6.KB2 * C3H/HeJ MGI:3588731
ht6
Cln8mnd/Cln8+ involves: B6.KB2 * C57BL/6Fla MGI:3588673


Genotype
MGI:3588732
hm1
Allelic
Composition
Cln8mnd/Cln8mnd
Genetic
Background
AK.B6(Cg)-Cln8mnd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln8mnd mutation (2 available); any Cln8 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: die by 5.5 months of age

nervous system
• Background Sensitivity: motor neuron disease is accelerated even more than in the mixed AKR/J and B6.KB2 background, with symptoms appearing by 4 months and death by 5.5 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 8 DOID:0110723 OMIM:600143
J:56219




Genotype
MGI:2388398
hm2
Allelic
Composition
Cln8mnd/Cln8mnd
Genetic
Background
B6.KB2/Rn-Cln8mnd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln8mnd mutation (2 available); any Cln8 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: most die by 9-14 months of age (J:8492)

behavior/neurological
• hindlimbs are unable to grasp the bars of wire cagetop when attempting to walk over it
• unable to walk uphill
• dragging or splaying of the hindlimbs while walking
• age of onset is approximately 5- 11 months of age, progressive with age
• progress to severe spastic paresis and paralysis by 9 months of age
• age of onset is approximately 5- 11 months of age, progressive with age
• begin to develop paresis by 6 months of age

nervous system
• contain LFB-positive intracytoplasmic inclusion material in most neurons in virtually all parts of the brain and spinal cord unlike in controls
• inclusion bodies containing ubiquitin were found in spinal neurons of mnd mice, even prior to onset of symptoms (J:8492)
• motor neurons have eccentric or indiscrete nuclei, disrupted membranes and shape changes (J:8492)
• Background Sensitivity: exhibit motor neuron disease symptoms at around 6 months of age (J:56219)
• degeneration of the upper and lower motor neurons of the spinal cord and cranial nerves and of some areas of the brain
• degeneration of cranial nerves
• degenerating dorsal motor vagus
• degeneration of anterior horn cells in the spinal cord

reproductive system
• lower number of progeny/litter and lower numbers of total litters

vision/eye
• atrophy of the photoreceptor layer in mice older than 3 months and nearly complete loss of this layer by 8 months of age
• begin to become blind by 2 months of age and by 5 months, are completely blind

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 8 DOID:0110723 OMIM:600143
J:12816 , J:56219




Genotype
MGI:2388401
hm3
Allelic
Composition
Cln8mnd/Cln8mnd
Genetic
Background
involves: AKR/J * B6.KB2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln8mnd mutation (2 available); any Cln8 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: death by 7 months of age, compared to 9-14 months on the inbred B6.KB2 background (J:1224)

vision/eye
• focal thinning of the retinal pigment epithelium occurs at late stages of degeneration
• at P15, the outer nuclear layer (ONL) contains greater number of pyknotic nuclei and is thinner
• rapid thinning of the ONL by P25, with a more gradual thinning at later ages
• rapid thinning of the rod inner segment layer by P25, with a more gradual thinning at later stages
• at very late stages of degeneration, inner segments are shortened and broadened
• progressive shortening of the outer segments while maintaining relatively normal structure
• rapid thinning of the rod outer segment layer by P25, with a more gradual thinning at later stages
• detectable at P15 and more pronounced with age

pigmentation
• focal thinning of the retinal pigment epithelium occurs at late stages of degeneration

nervous system
• Background Sensitivity: earlier age of onset (4.5-5 months) and increased speed of progression of neurological disease than on the inbred B6.KB2 background
• Background Sensitivity: motor neuron disease is accelerated with 40% exhibiting symptoms by 4.5 months of age and dying by 6.5-7 months
• rapid thinning of the rod inner segment layer by P25, with a more gradual thinning at later stages
• at very late stages of degeneration, inner segments are shortened and broadened
• progressive shortening of the outer segments while maintaining relatively normal structure
• rapid thinning of the rod outer segment layer by P25, with a more gradual thinning at later stages

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 8 DOID:0110723 OMIM:600143
J:56219




Genotype
MGI:3810164
hm4
Allelic
Composition
Cln8mnd/Cln8mnd
Genetic
Background
involves: B6.KB2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln8mnd mutation (2 available); any Cln8 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• terminal seizures have been seen
• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
• lesions in the spinal cord are consistent with Wallerian degeneration
• however, no necrotic or apoptotic nuclei are detected in the central nervous system
• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
• lesions in the spinal cord are consistent with Wallerian degeneration

behavior/neurological
• terminal seizures have been seen




Genotype
MGI:3588731
hm5
Allelic
Composition
Cln8mnd/Cln8mnd
Genetic
Background
involves: B6.KB2 * C3H/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln8mnd mutation (2 available); any Cln8 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: death similar to that seen on the inbred B6.KB2 background (J:1224)

nervous system
• Background Sensitivity: neurological disease progresses in a similar fashion as on the inbred B6.KB2 background
• Background Sensitivity: exhibit motor neuron disease symptoms at around 6 months of age and do not die prior to 10-12 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 8 DOID:0110723 OMIM:600143
J:56219




Genotype
MGI:3588673
ht6
Allelic
Composition
Cln8mnd/Cln8+
Genetic
Background
involves: B6.KB2 * C57BL/6Fla
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln8mnd mutation (2 available); any Cln8 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• exhibit neurological disease, with onset of mild symptoms at an age (5 months) similar to homozygotes (J:8492)
• slower emergence of more severe motor neuron disease symptoms than in homozygotes (J:8492)
• NOTE: It was originally thought that heterozygoous mice as old as 18 months could be visually identified; however, it has been impossible to repeat these results- no histological pathology is detectable. (J:218228)





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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/22/2022
MGI 6.21
The Jackson Laboratory