16p11.2 deletion
Donating investigator/institution: Alea Mills, Ph.D./Cold Spring Harbor Laboratory
Description: These mutant mice possess an engineered deletion spanning approximately 0.39 megabases on mouse chromosome 7, a region that shares conserved synteny with human chromosome 161.
- B6/129 mixed background strain
16p11.2 deletion
Donating investigators/institutions: Ricardo Dolmetsch, Ph.D./Stanford University; Jacqueline Crawley, Ph.D./University of California Davis School of Medicine
Description: This line has the syntenic 440 kilobase-pair region on mouse chromosome 7F3 deleted (between and including CORO1A to SPN) and also expresses a membrane-targeted fluorescent reporter gene (mCherry) under the control of the CAG promoter2.
- B6/129 mixed background strain
16p11.2 duplication
Donating investigator/institution: Alea Mills, Ph.D./Cold Spring Harbor Laboratory
Description: These mutant mice possess an engineered duplication of approximately 0.39 megabases of mouse chromosome 7, a region that shares conserved synteny with human chromosome 161.
- B6/129 mixed background strain
- B6 congenic strain
ADNP deletion
Donating investigator/institution: Frank Kooy, Ph.D. /University of Antwerp
Description: This CRISPR/Cas9 generated mutant of the Adnp gene carries a 14 nucleotide deletion in exon 5.
- B6 strain
ARID1B floxed
Donating investigator/institution: Hao Zhu, M.D./ University of Texas Southwestern Medical Center
Description: ARID1B floxed (Arid1bFl; floxed exon 5) mice have a CRISPR/cas9-generated, Cre-conditional knock-out allele3.
- B6 strain
CACNA1C (TS2-neo) mutation
Donating investigator/institution: Randall Rasmusson, Ph.D./University of Buffalo, The State University of New York
Description: These mutant mice harbor a G406R mutation in exon 8a, as well as an inverted neo cassette4.
- B6 congenic strain
CHD8 floxed
Donating investigator/institution: : Cathleen Lutz, Ph.D./The Jackson Laboratory
Description: This CRISPR/Cas9 generated mutant of the Chd8 gene carries a floxed exon 3. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 3 deleted in the cre-expressing tissues. Removal of the floxed sequence creates a null allele.
- B6 strain
CNTNAP2 (CASPR2) deletion
Donating investigator/institution: Elior Peles, Ph.D./Weizmann Institute of Science
Description: CNTNAP2-null mice were generated by a standard gene-targeting approach, resulting in the replacement of its first exon, which includes the translation initiation site and its signal sequence with a neo gene5, 6.
- B6 congenic strain
CUL3 floxed
Donating investigator/institution: Jeffrey Singer, Ph.D./Portland State University
Description: CUL3flox (loxP::frt-neo-frt::exons4-7::loxP) is a cullin 3 hypomorphic allele that is converted to a null allele after Cre recombinase exposure7.
- B6 strain
DYRK1A floxed
Donating investigator/institution: John D. Crispino, Ph.D./Northwestern University
Description: These floxed mutant mice possess loxP sites flanking exons 5 and 6 of the DYRK1A gene8.
- B6 strain
GRIN2B floxed
Donating investigator/institution: Cathleen Lutz, Ph.D./The Jackson Laboratory
Description: This CRISPR/Cas9 generated mutant of the Grin2b gene possesses loxP sites flanking 599 nucleotides (exon 4 of Ensembl transcript 201 and exon 5 of transcript 202). When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have loxP site flanked region deleted in the cre-expressing tissues.
- B6 strain
GTF2I duplication
Donating investigator/institution: Lucy Osborne, Ph.D./University of Toronto; Jacqueline Crawley, Ph.D./University of California, Davis
Description: The GTF2I duplication allele has one additional copy of a functional mouse general transcription factor 2I (TFII-I). This gene is within the region implicated in 7q11.23 duplication syndrome9.
- B6 congenic strain
RAI1 floxed
Donating investigator/institution: Liqun Luo, Ph.D./Stanford University, HHMI
Description: These mutant mice have loxP sites flanking exon 3 of the retinoic acid induced 1 (RAI1) gene. Removal of the floxed sequence creates a null allele10.
- B6 congenic strain
RAI1 tagged
Donating investigator/institution: Liqun Luo, Ph.D./Stanford University, HHMI
Description: The Rai1Tag knock-in allele expresses a FLAG/myc-tagged RAI1 (Rai1-Tag) before Cre recombinase exposure. Cre-mediated deletion of the floxed FLAG-myc-STOP sequence results in expression of RAI1/EGFP fusion protein (Rai1EGFP)10.
- B6 strain
SHANK3 deletion
Donating investigator/institution: Joseph Buxbaum, Ph.D./Mount Sinai School of Medicine
Description: These mutant mice harbor a deletion of the SH3/ankyrin domain gene 3 (SHANK3) ankyrin repeat domains (exons 4-9); this deletion prevents full-length SHANK3 expression11.
- B6 congenic strain
SHANK3 deletion
Donating investigator/institution: Guoping Feng, Ph.D./Duke University
Description: These mutant mice harbor a deletion of the PDZ domain, which eliminates expression of the ‘A’ and ‘B’ isoforms12.
- B6 congenic strain
SYNGAP1 conditional deletion
Donating investigator/institution: Gavin Rumbaugh, Ph.D./The Scripps Research Institute
Description: These mice have an insertion of a loxP sequences flanking exons 6 to 7 of the SYNGAP1 gene. Upon Cre-mediated deletion, this strategy results in the deletion of the sequences encoding for the PH domain and possibly part of the C2 domain, resulting in an out-of-frame deletion and ablation of the targeted allele13.
- B6 strain
SYNGAP1 conditional rescue
Donating investigator/institution: Gavin Rumbaugh, Ph.D./The Scripps Research Institute
Description: These mice have an insertion of a loxP_Neo-STOP_loxP cassette within intron 5 of the SYNGAP1 gene. This leads to a premature arrest of SYNGAP translation and ablation of the targeted allele. Upon Cre-mediated deletion of the inserted cassette, endogenous SYNGAP expression is restored13.
- B6 strain
UBE3A variant 1 overexpression
Donating investigator/institution: Scott Dindot, Ph.D./Texas A&M University
Description: These transgenic mice allow Tet-off/ Tet-on expression of a FLAG-tagged UBE3A splice variant 1 protein, in addition to normal expression of endogenous UBE3A. Funded in collaboration with Dup15q Alliance.
- FVB/NJ strain
UBE3A variant 2 overexpression
Donating investigator/institution: Scott Dindot, Ph.D./Texas A&M University
Description: These transgenic mice allow Tet-off/ Tet-on expression of a FLAG-tagged UBE3A splice variant 2 protein, in addition to normal expression of endogenous UBE3A. Funded in collaboration with Dup15q Alliance.
- FVB/NJ strain
UBE3A variant 2, 3 overexpression
Donating investigator/institution: Matthew Anderson, M.D., Ph.D./Beth Israel Deaconess Medical Center, Harvard Medical School
Description: These transgenic mice allow expression of FLAG-tagged UBE3A long isoforms (splice variants 2 and 3, L), in addition to endogenous UBE3A14.
- FVB/NJ strain
We are in the process of identifying additional lines of mutant mice that hold sufficient promise as models of autism spectrum disorders. We will update this page as soon as new models become available.