| Primary Identifier | MGI:2385783 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Hypomorph | Gene | Galc |
| Transmission | Germline | Strain of Origin | 129S2/SvPas |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A construct, containing a neo cassette in intron 4 and a missense mutation introduced into exon 5 via site directed mutagenesis of nucleotides 502 and 503, was incorporated at the endogenous locus via homologous recombination. The resultant histidine to cysteine substitution (H168C) recapitulates an amino acid change observed in a human leukodystrophy. RT-PCR and sequence analyses identified two species of message in homozygous mutant mice; a normal length (450 bp) transcript containing the missense mutation and a 900 bp transcript produced by aberrant splicing of intron 4. Normal levels of normal length transcript were detected by Northern blot analysis, while the aberrant transcript was not. |
