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. Author manuscript; available in PMC: 2010 Nov 10.
Published in final edited form as: Nat Rev Neurosci. 2010 Jun;11(6):402–416. doi: 10.1038/nrn2841

Figure 2. Mouse models of the 22q11.2 microdeletion.

Figure 2

The chromosomal location and genetic organization of the 22q11.2 locus in humans is shown at the top. Each light green circle represents one gene. This 1.5 megabase (Mb) region is flanked by low-copy-repeat sequences (represented by grey boxes), making it prone to non-homologous recombination. The syntenic region of mouse chromosome 16 (MMU 16qA13) and the genetic organization of the corresponding orthologues are shown. Single-gene deletion models that have been characterized as heterozygotes for neuronal and behavioural abnormalities are indicated by dark green circles. Also shown are the various multigene deletion models that have been characterized for neuronal and behavioural abnormalities labelled using their Mouse Genome Database (MGD) allele symbols and commonly used synonyms. They include mice deficient for seven genes spanning ~150 kilobases (kb) of the 1.5 Mb deletion syntenic region (Del(16Zpf520–Slc25a1)1Awb mice (also known as DelAwb mice))149; a 22q11.2 model spanning ~1 Mb and containing 18 orthologues of the human genes in the 1.5 Mb deletion (Del(16Es2el–Ufd1l)217Bld mice (also known as Df1 mice))148,154; mice with a hemizygous deletion spanning ~1.3 Mb and containing all but one of the orthologous genes in the 1.5 Mb deletion (Del(Dgcr2–Hira)1Rak mice (also known as Del1Rak or LgDel mice))153 and mice with a hemizygous deletion syntenic to the human 1.5 Mb deletion (Del(Dgcr2–Hira)2Aam mice)114. ARVCF, armadillo repeat gene deleted in velocardiofacial syndrome; CDC45L, cell division cycle 45-like; CLDN5, claudin 5; CLTCL1, clathrin, heavy chain-like 1; COMT, catechol-O-methyltransferase; DGCR, DiGeorge syndrome critical region; DGCR6L, DiGeorge syndrome critical region 6-like; GNB1L, guanine-nucleotide-binding protein (G protein) β-polypeptide 1-like; GP1BB, glycoprotein Ib, β-polypeptide; GSCL, goosecoid-like; HIRA, histone cell cycle regulation defective A; HTF9C, HpaII tiny fragments locus 9C (also known as TRMT2A); MRPL40, mitochondrial ribosomal protein L40; PRODHP, proline dehydrogenase pseudogene; RANBP1, RAN binding protein 1; RTN4R, reticulon 4 receptor; SEPT5, septin 5; SLC25A1, solute carrier family 25, member 1; Stk22a, serine/threonine kinase 22A (also known as Tssk1); STK22B, serine/threonine kinase 22B (also known as TSSK2); TBX1, T-box 1; TXNRD2, thioredoxin reductase 2; UFD1L, ubiquitin fusion degradation 1-like; Vpreb2, pre-B lymphocyte gene 2; ZDHHC8, zinc finger, DHHC-type containing 8.