| Primary Identifier | MGI:3620317 | Allele Type | Targeted |
| Attribute String | Reporter | Gene | Plxnb2 |
| Inheritance Mode | Recessive | Transmission | Germline |
| Strain of Origin | 129P2/OlaHsd | Is Recombinase | false |
| Is Wild Type | false |
| description | On a primarily C57BL/6 background, homozygosity for this mutation causes perinatal death due to severe cranial neural tube closure defects that result in exencephaly, sometimes accompanied by a curled tail and/or spina bifida. Survivors among mutant mice of a mixed, partly (outbred) CD-1 background behave normally and even breed, although their cerebellar architecture is severly disrupted. |
| molecularNote | Targeted mutagenesis using a promoterless gene trap vector ("targeted trapping") was used to insert a 9.4-kb placental alkaline phosphatase (PLAP) secretory cassette into the intron between exons 16 and 17 (counting the exon containing the translational start site as exon 1). This results in transcription of a fusion mRNA joining exons 1-16 of the endogenous gene to the elements of the cassette, comprising a splice acceptor and a transmembrane domain coding sequence followed by the betageo (lacZ/neomycin resistance fusion) cDNA, an internal ribosomal entry site (IRES), and the human PLAP sequence with a polyadenylation signal. Two proteins are translated from this bicistronic transcript: a PLXNB2/Betageo fusion protein that is sequestered in an intracellular compartment of the neuronal cell body; and PLAP, which is expressed on the axonal surface. |
