| Primary Identifier | MGI:2182068 | Allele Type | Transgenic |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(NEFH)200Jpj |
| Strain of Origin | Not Specified | Is Recombinase | false |
| Is Wild Type | false |
| description | Founder 200 is representative of 2 founders carrying 14 and 20 copies of the transgene. These animals express approximately 1.5x - 4x the amount of endogenous mRNA and develop neurological anomalies after the first few weeks of life with progressive severity. The phenotype is more severe in homozygous mice verses hemizygous mice, implying a correlation between phenotype and expression levels of NEFH. |
| molecularNote | The complete human NFH gene including 9.6 kb of 5' sequences and 13.4 kb of 3' sequences, coding for 43 Lys-Ser-Pro (KSP) phosphorylation sites, was used for the transgene. Expression of the human gene in transgenic animals was confirmed by Western blot analysis. |
