Phf6^tm1.2Avo
Targeted Allele Detail

Summary

• Symbol: Phf6^tm1.2Avo
• Name: PHD finger protein 6; targeted mutation 1.2, Anne K Voss
• MGI ID: MGI:6507035
• Gene: Phf6 Location: ChrX:52001143-52045820 bp, + strand Genetic Position: ChrX, 29.28 cM, cytoband A4
• Alliance: Phf6^tm1.2Avo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:276228
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted upstream of exon 4 and an FRT-flanked neomycin selection cassette followed by a second loxP site were inserted downstream of exon 5. The neomycin cassette was removed via Flp-mediated recombination. Exons 4 and 5 were removed via cre-mediated recombination. (J:276228)

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	Phf6^tm1.2Avo/Phf6^tm1.2Avo	involves: BALB/c * BALB/cJ * C57BL/6 * FVB/N
ht2	Phf6^tm1.2Avo/Phf6^+	involves: BALB/cJ * C57BL/6
cx3	Phf6^tm1.2Avo/Y Socs2^tm1Wehi/Socs2^tm1Wehi	involves: BALB/c * BALB/cJ * C57BL/6 * FVB/N
ot4  Disease Model	Phf6^tm1.2Avo/Y	involves: BALB/c * BALB/cJ * C57BL/6 * FVB/N
ot5	Phf6^tm1.2Avo/Y	involves: BALB/cJ * C57BL/6

Phenotypes:

Affected Systems	hm1	ht2	cx3	ot4	ot5
show or hide all annotated terms Sex:
adipose tissue				√
increased white adipose tissue amount				√
endocrine/exocrine glands				√
small pituitary gland				√
growth/size/body	√	√	N	√
growth/size/body region phenotype			N
decreased lean body mass				√
decreased body size	√			√
decreased body weight		√		√
homeostasis/metabolism				√
decreased circulating insulin-like growth factor I level				√
decreased adrenocorticotropin level				√
decreased growth hormone level				√
decreased circulating growth hormone level				√
decreased prolactin level				√
mortality/aging				√	√
mortality/aging				N
perinatal lethality, complete penetrance					√
postnatal lethality, incomplete penetrance				√
neoplasm		√
increased leukemia incidence		√
nervous system				√
small pituitary gland				√
reproductive system				N
reproductive system phenotype				N

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ot4
Borjeson-Forssman-Lehmann syndrome IDs Borjeson-Forssman-Lehmann syndrome       DOID:0050681 MESH:C536575 NCI:C157122 OMIM:301900 ORDO:127 UMLS_CUI:C0265339 Close	√

Expression

In Structures Affected by this Mutation:

4 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 Phf6 Mutation: 12 strains or lines available

References

• Original: J:276228 McRae HM, et al., PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia. Blood. 2019 Apr 18;133(16):1729-1741
• All: 2 reference(s)