Fancd2^{Gt(OST57859)Lex}
Gene trapped Allele Detail

Summary

• Symbol: Fancd2^{Gt(OST57859)Lex}
• Name: Fanconi anemia, complementation group D2; gene trap OST57859, Lexicon Genetics
• MGI ID: MGI:3530554
• Synonyms: Fancd2^-, Fancd2^{Gt(IRESBetageo)479Lex}
• Gene: Fancd2 Location: Chr6:113508643-113573978 bp, + strand Genetic Position: Chr6, 52.78 cM, cytoband E3
• Alliance: Fancd2^{Gt(OST57859)Lex} page

Mutation origin

• Mutant Cell Line: OST57859
• Germline Transmission: Earliest citation of germline transmission: J:146616
• Parent Cell Line: Lex-1 (ES Cell)
• Strain of Origin: 129S5/SvEvBrd
• Project Collection: Lexicon

Mutation description

• Allele Type: Gene trapped (Null/knockout)
• Mutation: Insertion of gene trap vector
• The gene trap inserted between exon 1 and 2. (J:94338, J:168056)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  OST57859	CG507746 ; (MGI Seq Detail)	3' RACE	Chr6:113512724-113514010 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  24 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Fancd2^Gt(OST57859)Lex/Fancd2^Gt(OST57859)Lex	involves: 129S5/SvEvBrd
hm2	Fancd2^Gt(OST57859)Lex/Fancd2^Gt(OST57859)Lex	involves: 129S5/SvEvBrd * C57BL/6
cx3	Fan1^tm1.1Jrou/Fan1^tm1.1Jrou Fancd2^Gt(OST57859)Lex/Fancd2^Gt(OST57859)Lex	involves: 129P2/OlaHsd * 129S5/SvEvBrd
cx4  Disease Model	Fancd2^Gt(OST57859)Lex/Fancd2^Gt(OST57859)Lex Usp1^tm1.1Ada/Usp1^tm1.1Ada	involves: 129S5/SvEvBrd * C57BL/6
cx5	Fancd2^Gt(OST57859)Lex/Fancd2^Gt(OST57859)Lex Fanci^tm1.1Itl/Fanci^tm1.1Itl	involves: 129S5/SvEvBrd * C57BL/6J * CBA

Phenotypes:

Affected Systems	hm1	hm2		cx3	cx4		cx5
show or hide all annotated terms Sex:
cellular	√		√		√	√
oligozoospermia			√
abnormal spermatocyte morphology			√
abnormal male meiosis			√
increased cellular sensitivity to DNA damaging agents	√
increased cellular sensitivity to ionizing radiation					√	√
induced chromosome breakage					√	√
endocrine/exocrine glands		√	√		√
decreased mature ovarian follicle number		√
ovary atrophy					√
abnormal seminiferous tubule morphology			√
small testis			√
growth/size/body		√	√
decreased body weight		√	√
postnatal growth retardation		√	√
fetal growth retardation		√	√
hematopoietic system	√						√
abnormal bone marrow cell morphology/development	√						√
thrombocytopenia	√						√
decreased hematopoietic stem cell number	√						√
homeostasis/metabolism				√
increased physiological sensitivity to xenobiotic				√
mortality/aging		√	√				√
perinatal lethality, incomplete penetrance		√	√
prenatal lethality, incomplete penetrance							√
neoplasm		√	√
increased adenoma incidence		√	√
increased carcinoma incidence		√	√
reproductive system		√	√		√
oligozoospermia			√
abnormal spermatocyte morphology			√
abnormal male meiosis			√
decreased mature ovarian follicle number		√
ovary atrophy					√
abnormal seminiferous tubule morphology			√
small testis			√
vision/eye		√	√
microphthalmia		√	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cx4
Fanconi anemia complementation group D2 IDs Fanconi anemia complementation group D2       DOID:0111083 OMIM:227646 Close	√

Expression

In Mice Carrying this Mutation:	72 assay results
In Structures Affected by this Mutation:	6 anatomical structure(s)

Find Mice (IMSR)

• 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 Fancd2 Mutation: 82 strains or lines available

References

• Original: J:146616 Kim JM, et al., Inactivation of murine Usp1 results in genomic instability and a Fanconi anemia phenotype. Dev Cell. 2009 Feb;16(2):314-20
• All: 14 reference(s)