Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Hand1tm2.1(Hand1)Abfi
Name:	heart and neural crest derivatives expressed 1; targeted mutation 2.1, Anthony B Firulli
MGI ID:	MGI:4843975
Synonyms:	Hand1deltaNeo, Hand1tm1.1(Hand1)Abfi
Gene:	Hand1  Location: Chr11:57719539-57722973 bp, - strand  Genetic Position: Chr11, 35.27 cM
Alliance:	Hand1tm2.1(Hand1)Abfi page

Germline Transmission:	Earliest citation of germline transmission: J:164028
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Hypomorph) Mutation:    Insertion   Mutation details: The coding region of Hand1 from a 600-bp cDNA initiating at the ATG and terminating at the stop codon followed by an EGFP expression cassette and a PGKNeo cassette flanked by loxP sites were inserted in frame at the position of the initiation codon. The PGKNeo cassette from Hand1tm2(Hand1)Abfi was removed via cre-mediated recombination. EGFP expression is not detected in E9.5 embryos. qRT-PCR indicates that heterozygotes express about 50% of wild-type mRNA levels while homozygotes express at 30% that of wild-type, indicating that this is a hypomorphic allele. In situ analysis indicates that expression is not uniformly reduced throughout the embryo. (J:164028)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hand1 Mutation:	14 strains or lines available

Original:	J:164028 Firulli BA, et al., Analysis of a Hand1 hypomorphic allele reveals a critical threshold for embryonic viability. Dev Dyn. 2010 Oct;239(10):2748-60
All:	1 reference(s)