The detail information of Neuronal ceroid lipofuscinosis, 7
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2015

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB71 Chihuahua 15.2-22.9 cm 1.4-2.7 kg Mexico
CB72 Chinese Crested 27.9-33 cm 3.6-5.4 kg Africa, Mexico
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2016 Ashwini,A.,D'Angelo,A.,Yamato,O.,Giordano,C.,Cagnotti,G.,Harcourt-Brown,T.,Mhlanga-Mutangadura,T.,Guo,J.,Johnson,G.S.,Katz,M.L.: :
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Mol Genet Metab 118:326-32, 2016.
Pubmed reference: 27211611 . DOI: 10.1016/j.ymgme.2016.05.008 .
2016 Faller,K.M.,Bras,J.,Sharpe,S.J.,Anderson,G.W.,Darwent,L.,Kun-Rodrigues,C.,Alroy,J.,Penderis,J.,Mole,S.E.,Gutierrez-Quintana,R.,Guerreiro,R.J.: :
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? J Neurosci Res 94:339-47, 2016.
Pubmed reference: 26762174 . DOI: 10.1002/jnr.23710 .
2016 Karli,P.,Oevermann,A.,Bauer,A.,Jagannathan,V.,Leeb,T.: :
MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. Anim Genet :, 2016.
Pubmed reference: 27145727 . DOI: 10.1111/age.12449 .
2015 Guo,J.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Olby,N.J.,Taylor,J.F.,Schnabel,R.D.,Katz,M.L.,Johnson,G.S.: :
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res 10:960, 2015.
Pubmed reference: 25551667 . DOI: 10.1186/s12917-014-0181-z .