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Primary microcephaly
Primary microcephaly is characterized by a significantly reduced head circumference likely directly caused by the development of a small, but apparently normally formed brain (see links to subtypes below). All patients are affected mentally. Fly stocks in the Bloomington collection that can be used to study primary microcephaly are listed here.

General information links for Primary microcephaly:
- OMIM links for individual subtypes are provided in the table below
- a search for "primary microcephaly" in NLM/NIH's Genetics Home Reference will bring up GHR links for several of the genes below
MCPH subtypes with causative genes identified
Microcephaly subtype Human gene Fly gene
MCPH1 MCPH1/Microcephalin Microcephalin (MCPH1)
MCPH2 WDR62 Wdr62
MCPH3 Cdk5rap2 (CDK5 regulatory subunit associated protein 2) centrosomin (cnn) (but see also Eisman and Kaufman, 2013)
MCPH4 Cep152 (Centrosomal protein 152 kDa) asterless (asl)
MCPH5 ASPM (Abnormal spindle-like, microcephaly-associated) abnormal spindle (asp)
MCPH6 CENPJ/CPAP (Centromeric protein J) Sas-4
MCPH7 STIL (SCL/TAL1 interrupting locus) ana2
MCPH8 CEP135 (Centrosomal protein, 135-kD) Cep135
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
MCPH1      Human MCPH1       Fly MCPH1
MCPH1 MCPH1[Exc21] 57333 Imprecise excision of P{EPgy2}CG13189[EY11307] that removes MCPH1 internal coding seqs resulting in little or no protein made. Some of the CG13189 is likely removed, but the 5'UTR, coding and 3'UTR seqs are intact.
MCPH1 MCPH1[Z4050] 57332 An allele of MCPH1 (aa change E192K)
MCPH1 MCPH1[Z1861] 57330 An allele of MCPH1 (aa change Q67@)
MCPH1 MCPH1[Z0978] 57331 An allele of MCPH1 (aa change N363I)
MCPH1 P{TRiP.HMS01688}attP40 38244 Expresses dsRNA for RNAi of MCPH1 (FBgn0260959) under the control of UAS.
MCPH1 P{UASp-MCPH1.MYC.S}3 56498 Expresses the short MCPH1 isoform with an N-terminal myc tag under UAS control.
MCPH1 P{UASp-MCPH1.MYC.L}3 54580 Expresses the long MCPH1 isoform with an N-terminal myc tag under UAS control.
MCPH1 P{UASp-MCPH1.EGFP.S}3 54581 Expresses the short MCPH1 isoform with an N-terminal EGFP tag under UAS control.
MCPH1 P{UASp-MCPH1.EGFP.L}2 54579 Expresses the long MCPH1 isoform with an N-terminal EGFP tag under UAS control.
MCPH2      Human WDR62       Fly Wdr62
Wdr62 P{SUPor-P}Wdr62[KG00333] 13092 This insertion is uncharacterized insertion in the first exon (a noncoding exon) and is an unverified lethal (suggesting it may disrupt function). 4/23/12
Wdr62 P{EPgy2}Wdr62[EY20125] 22652 This insertion is uncharacterized insertion in the first coding exon. 4/23/12
Wdr62 P{EPgy2}Wdr62[EY09575] 17581 This intronic insertion is uncharacterized but is an unverified lethal (suggesting it may disrupt function). 4/23/12
Wdr62 Mi{ET1}Wdr62[MB09715] 27798 This insertion is uncharacterized insertion in an alternatively spliced coding exon. 4/23/12
Wdr62 P{TRiP.GLC01394}attP2 53242 Expresses dsRNA for RNAi of CG7337 (FBgn0031374) under UAS control.
Wdr62 Mi{PT-GFSTF.0}Wdr62[MI10770-GFSTF.0] 66372 Recombination Mediated Cassette Exchange of a Mi{MIC} insertion results in expression of Wdr62 tagged with EGFP-FlAsH-StrepII-TEV-3xFlag.
Wdr62 PBac{IT.GAL4}Wdr62[1351-G4] 65672 May express GAL4 in some or all of the pattern of the Wdr62 gene.
Wdr62 PBac{IT.GAL4}Wdr62[1287-G4] 65649 May express GAL4 in some or all of the pattern of the Wdr62 gene.
MCPH3      Human Cdk5rap2       Fly cnn (but see also Eisman and Kaufman, 2013)
cnn Df(2R)cnn 9401 Deficiency that deletes all of 50A and perhaps some of 50B1-B2, including cnn
cnn cnn[mfs7] 28994 cnn mutation (stop codon at L794); predicted protein lacks the C-terminal 355 amino acids, including the third leucine zipper
cnn cnn[mfs3] 27626 cnn mutation (stop codon at Q959 in the third leucine zipper); predicted protein lacks the C-terminal 190 amino acids
cnn cnn[HK21] 5039 cnn mutation (stop codon at Q106); predicted protein lacks all three leucine zippers
cnn P{TRiP.JF01769}attP2 31402 Expresses dsRNA for RNAi of cnn under UAS control.
cnn P{TRiP.HMS01509}attP2 35761 Expresses dsRNA for RNAi of cnn (FBgn0013765) under the control of UAS.
cnn P{TRiP.GLC01863}attP40 57149 Expresses dsRNA for RNAi of cnn (FBgn0013765) under UAS control.
cnn Mi{PT-GFSTF.2}cnn[MI08383-GFSTF.2] 60266 Recombination Mediated Cassette Exchange of a Mi{MIC} insertion results in expression of cnn tagged with EGFP-FlAsH-StrepII-TEV-3xFlag.
cnn P{UASp-GFP-Cnn1}26-1 7255 Expresses GFP-tagged cnn under UAS control.
MCPH4      Human Cep152       Fly asl
asl P{TRiP.HMS01453}attP2 35039 Expresses dsRNA for RNAi of asl (FBgn0261004) under the control of UAS.
asl P{TRiP.GL00661}attP40 38220 Expresses dsRNA for RNAi of asl (FBgn0261004) under the control of UAS.
MCPH5      Human ASPM       Fly asp
asp asp[1] 1972 asp hypomorph (EMS-generated)
asp Mi{MIC}asp[MI09721] 52200 This Mi{MIC} insertion in coding sequence is uncharacterized but is an unverified lethal suggesting it may disrupt function.
asp Mi{ET1}asp[MB11367] 29202 This insertion of an Mi{ET1} element (in the fourth exon) is uncharacterized but is an unverified lethal (suggesting it may disrupt function), 9/13/2010.
asp P{TRiP.JF03169}attP2 28741 Expresses dsRNA for RNAi of asp under UAS control.
asp P{TRiP.GL00108}attP2 35224 Expresses dsRNA for RNAi of asp (FBgn0000140) under the control of UAS.
MCPH6      Human CENPJ (aka CPAP)       Fly Sas-4
Sas-4 P{lacW}Sas-4[s2214] 12119 P{lacW} insertion in the first exon of Sas-4 causes loss of function.
Sas-4 P{TRiP.HMS01463}attP2 35049 Expresses dsRNA for RNAi of Sas-4 (FBgn0011020) under the control of UAS.
MCPH7      Human STIL       Fly ana2
ana2 P{EP}ana2[G18245] 28100 This P{EP} insertion is uncharacterized but is oriented such that it might overexpress ana2 in the presence of GAL4.