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Kmt2btm1Afst
Targeted Allele Detail
Summary
Symbol: Kmt2btm1Afst
Name: lysine (K)-specific methyltransferase 2B; targeted mutation 1, A Francis Stewart
MGI ID: MGI:3623309
Synonyms: Mll2-
Gene: Kmt2b  Location: Chr7:30268283-30288151 bp, - strand  Genetic Position: Chr7, 18.63 cM, cytoband A3
Alliance: Kmt2btm1Afst page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:107403
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA targeting vector was designed to insert an FRT flanked sequence containing the splice acceptor sequence from exon 2 of engrailed 2, EMCV IRES, a lacZ-neo cassette and SV40 polyA signal into intron 1. There was a loxP site on the 3' end and a second loxP site inserted into intron 2. RT-PCR confirmed that the cassette truncated the transcript before exon 2. A transcript encoding the first 121 amino acids of the locus fused to 40 frameshifted amino acids encoded by the second exon of engrailed 2 could be expressed. Transcript was not detected by RT-PCR of mutants. (J:107403)
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 CompositionGenetic BackgroundCell Line(s)
involves: 129P2/OlaHsd * C57BL/6
 
Kmt2btm1Afst/Kmt2b+
involves: 129P2/OlaHsd
 
involves: 129P2/OlaHsd * BALB/c * C3H/HeH
 
involves: 129 * 129P2/OlaHsd * C57BL/6
 
involves: 129 * 129P2/OlaHsd * C57BL/6 * FVB/N
 
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6
 
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6
 
Phenotypes:
Affected Systems
show or hide all annotated terms Sex:
       
adipose tissue
increased epididymal fat pad weight
cardiovascular system
pericardial effusion
cellular
abnormal cell physiology
abnormal female meiosis I arrest
increased apoptosis
abnormal DNA methylation
abnormal imprinting
embryo
embryonic growth arrest
embryonic growth retardation
open neural tube
kinked neural tube
abnormal somite development
endocrine/exocrine glands
abnormal ovarian follicle number
decreased primary ovarian follicle number
increased primary ovarian follicle number
decreased primordial ovarian follicle number
decreased secondary ovarian follicle number
increased secondary ovarian follicle number
increased atretic ovarian follicle number
increased follicle recruitment
decreased insulin secretion
growth/size/body
embryonic growth retardation
homeostasis/metabolism
pericardial effusion
decreased insulin secretion
increased circulating glucose level
decreased circulating estradiol level
increased circulating follicle stimulating hormone level
increased circulating luteinizing hormone level
increased circulating insulin level
edema
impaired glucose tolerance
insulin resistance
liver/biliary system
N
liver/biliary system phenotype
N
mortality/aging
embryonic lethality between somite formation and embryo turning, incomplete penetrance
embryonic lethality, complete penetrance
embryonic lethality during organogenesis, complete penetrance
nervous system
open neural tube
kinked neural tube
exencephaly
reproductive system
abnormal female meiosis I arrest
abnormal ovarian follicle number
decreased primary ovarian follicle number
increased primary ovarian follicle number
decreased primordial ovarian follicle number
decreased secondary ovarian follicle number
increased secondary ovarian follicle number
increased atretic ovarian follicle number
increased follicle recruitment
decreased superovulation rate
female infertility
reduced female fertility
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 12 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 Kmt2b Mutation:  65 strains or lines available
Notes
Chimeras made using homozygous null ES cells where null cells are over 50% of the total cell population are absent by E18.5. Chimeras where null cells are less than 50% of the total cell population survive but the percentage of null cells decreases with age so that by E18.5 very few homozygous null cells are present, suggesting a cell autonomous defect.
References
Original:  J:107403 Glaser S, et al., Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development. Development. 2006 Apr;133(8):1423-32
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory