Aff1^tm1Cim
Targeted Allele Detail

Summary

• Symbol: Aff1^tm1Cim
• Name: AF4/FMR2 family, member 1; targeted mutation 1, Centre d'Immunologie de Marseille Luminy
• MGI ID: MGI:2386161
• Synonyms: mAF4^-
• Gene: Aff1 Location: Chr5:103840307-104003188 bp, + strand Genetic Position: Chr5, 50.45 cM, cytoband E
• Alliance: Aff1^tm1Cim page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:63253
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The gene was disrupted by replacement of part of exon 11 with a PGK-neo cassette via homologous recombination. Northern blot and RT-PCR analysis confirmed the absence of gene expression in homozygous mutant animals. (J:63253)

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)
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hm1	Aff1^tm1Cim/Aff1^tm1Cim	involves: 129P2/OlaHsd * BALB/c

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
endocrine/exocrine glands	√
thymus hypoplasia	√
growth/size/body	√
decreased body size	√
hematopoietic system	√
thymus hypoplasia	√
abnormal T cell differentiation	√
decreased double-positive T cell number	√
decreased B cell number	√
decreased mature B cell number	√
decreased pre-B cell number	√
decreased single-positive T cell number	√
immune system	√
abnormal immune system cell morphology	√
abnormal T cell differentiation	√
decreased double-positive T cell number	√
decreased B cell number	√
decreased mature B cell number	√
decreased pre-B cell number	√
decreased single-positive T cell number	√
abnormal immune system organ morphology	√
thymus hypoplasia	√
mortality/aging	√
postnatal lethality, incomplete penetrance	√

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

Expression

In Structures Affected by this Mutation:

3 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 Aff1 Mutation: 315 strains or lines available

References

• Original: J:63253 Isnard P, et al., Altered lymphoid development in mice deficient for the mAF4 proto-oncogene. Blood. 2000 Jul 15;96(2):705-10
• All: 1 reference(s)