Table 1 IAP insertions

^a A ^hvy

1855945

C3H/HeJ

~ 1994

Exon 1C,-^c

IAP forms 5′-end of transcript^d, Regulation by methylation

[181]

^a A ^iapy

1856403

C57BL/6J xC3H male

1992

Intron, −

IAP forms 5′-end of transcript^d, Regulation by methylation

[182]

A ^iy

1855933

C3H/HeJ

1964

Intron 1, −

IAP forms 5′-end of transcript^d, transcript contains internal IAP sequence

[183]

^a A ^vy

1855930

C3H/HeJ

1960

Exon 1A, −

IAP forms 5′-end of transcript^d, Regulation by methylation

[92, 183]

Adamts13 ^s

3579136

unknown, present in several strains

?

Intron 23, +

IAP causes premature polyadenylation and protein truncation. Reduced enzyme activity but no obvious phenotype

[184, 185]

Ap3d1 ^mh-2J

1856084

C3H/HeJ

Before 1988

Intron 21, +

Transcript contains internal IAP sequence, Truncated protein

[186]

Atcay ^ji-hes

1856898

C3H/HeJ-Tyr^c-a

1987

Intron 1, +

Transcript contains internal IAP sequence

[187]

Atp2b2 ^jog

3664103

DSO, derived from C3H/He-Pw hybrid

2000

Intron,+

Reduced mRNA levels, likely by terminating at poly(A) in IAP, also cryptic splicing suggested

[188]

Atrn ^mg

1856081

C3H – Swiss stock cross

1950

Intron 26, −

Transcript contains internal IAP sequence, Truncated protein, Likely termination in IAP

[189]

Atrn ^mg-L

2156486

C3H/HeJ

1981

Intron 27, +

Transcript contains internal IAP sequence, Reduced protein levels, Likely termination in IAP

[189]

^a Axin1 ^Fu

1856035

Bussey stock

Before 1931

Intron 6, −

IAP forms 5′-end of transcript^d, Regulation by methylation, and transcript contains internal IAP sequence, Truncated protein

[190, 191]

^a Axin1 ^Fu-kb

1856037

unknown

mid 1970s?

Exon 7, −

IAP forms 5′-end of transcript^d, transcript contains internal IAP sequence, Internally deleted protein

[190]

Clcc1 ^m1J

5618134

C3H/HeSnJ

After 1947

Intron 2, +

Transcripts contains internal IAP sequence, Reduced normal mRNA levels

[192]

Cryge ^No3

3713105

C3H/HeH ×  102/E1 F1

Late 1990s

Exon 3, +

Reduced mRNA levels, Transcript contains internal IAP sequence, Truncated protein

[193]

Dab1 ^scm

1856801

Dc/Le (Dc arose in an obese stock outcrossed to BALB/c x C3H/He hybrid. One cross to C3H/HeJ, then inbred.)

1991

Intron, −

Transcript contains internal IAP sequence, Truncated protein

[194, 195]

Dnmt3C ^IAP

N

C3HeB/FeJ

From chemical induction exp.

~ 2014

Last intron, −

IAP provides alternate splice acceptor site, resulting in exclusion of Dnmt3C last exon, chimeric Dnmt3C-IAP mRNA

[97]

Eya1 ^bor

1857803

C3HeB/FeJ

1984

Intron 7, +

Transcript contains internal IAP sequence, Reduced mRNA levels

[25]

Gata3 ^jal

3027100

C3H/HeJ

1990s

Intron 3, −

Unknown

[196]

Gpr179 ^nob5

5431477

C3H

After 1951

Intron 1, +

Drastically reduces gene expression

[197, 198]

Gria4 ^spkw1

3580141 (QTL)

C3H/HeJ

1950–2002

Intron 15, +

Full-length protein expression is significantly reduced

[199]

Gusb ^mps-2J

2152564

C3H/HeOuJ

mid 1990s?

Intron 8, +,

Reduced mRNA size and level, No enzyme activity detected

[200]

Hps3 ^coa-6J

1861609

C3H/HeJ

1999?

Exon 10, −

Transcript contains internal IAP sequence

[201]

Hps1 ^ep

1856712

C3HeB/FeJ

1957

3′-coding exon, −

Transcript contains internal IAP sequence, Protein contains IAP-encoded amino acids

[202]

Hps6 ^ru-6J

1856410

C3H/HeJ

1995

Unknown, +

Kidney: loss of expression, Brain: transcript contains IAP sequence

[203]

Kcnq1 ^vtg-2J

2389447

C3H/HeJCrl-Il2^tm1Hor

~ 2000

Exon 2, −

IAP fusion transcript likely promoted by antisense LTR. IAP provides 5′ end of 31 bp fused in frame to the gene.

[204]

LamB3 ^IAP

2179716

C3H (C3Hf/R1 male bred separately from JAX for decades)

~ 1990

Intron/exon junction (5′), −

Transcript contains internal IAP sequence, No mRNA or protein expression

[205]

Mc1r ^mpc59H

5791971

C3H.Pde6b

2010

Exon,?

Disruption of single exon gene

[206]

Mgrn1 ^md

1856070

C3H/HeJ

~ 1960

Intron 11, +

Reduced mRNA levels, aberrantly sized transcripts

[207, 208]

Mgrn1 ^md-2J

1856072

C3H/HeJ

1978–1993

Exon 12, +

Reduced mRNA levels, aberrantly sized transcripts

[207, 208]

Mgrn1 ^md-5J

1856519

C3H/HeJ

1978–1993

Intron 2, +

Not characterized

[207, 208]

Oprm1 ^IAP

N

CXBK recomb. Inbred of B6 & Balb

Before 1984

Exon 4,?

Decreased mRNA levels, increase in length of 3’UTR. Modifies response to opioids

[209]

Pcnx2 ^C3H/HeJ

6161760

C3H/HeJ

After 1950

Intron 19, +

Modifier of Gria4 mutation, reduces Pcnx2 expression

[83]

Pitpna ^vb

1856642

DBA/2J

Early 1960s

Intron 4, +

Transcript contains internal IAP sequence, Reduced mRNA & protein

[210]

Pla2g6 ^m1J

4412026

C3H/HeJ

mid 2000s

Intron 1,?

Reduces normal gene transcripts by ~ 90%

[211]

Plcd3 ^mNab

N

C3H mix

~ 2005

Intron 2, −

Causes truncated protein, LTR may act as antisense promoter?

[212]

Pofut1 ^cax

3719000

C3H/HeJ

mid 2000s

Intron 4,

Reduced mRNA and protein levels

[213]

Reln ^rl-Alb2

1857345

C3H/HeJ

From chemical ind. Exp.

~ 1990

Exon 36, −

Exon skipping, Reduced mRNA levels

[214]

Slc35d3 ^IAP

3802578

C3H/HeSn-Rab27a^ash/JRos

1980s–1990s

Exon 1, −

IAP fusion transcript likely promoted by antisense LTR. IAP provides 5′ end of 18 bp fused in frame to the gene.

[215]

Spta1 ^sph-Dem

2388936

CcS3/Dem recomb. Con. strain from BALB/cHeA and STS/A

1991

Intron 10/exon 11 junction, +

Exon skipping, Reduced protein expression, Reduced α−/β-spectrin dimer and tetramer stability

[216]

Tal1 ^Hpt

1859843

C57BL/6J x C3HeB/FeJLe-a/a)F1.

1979

Intron 4, +

Promotes overexpression of exons 4 and 5, fusion transcripts found.

[217]

Tnfrsf13c ^Bcmd1

2389403 (QTL)

A/WySnJ

Before 1991

Exon 3, +

Fusion transcripts, Loss of function mutation

[218]

Tyr ^cm1OR

2153728

C3Hf/R1

1988

Upstream, −

IAP does not form 5′-end of transcript, Reduced mRNA expression

[219]

Usp14 ^ax-J

1855959

CBA or kreisler stock

Early 1950s

Intron 5, +

Transcript contains internal IAP sequence, Reduced mRNA levels,

Truncated protein

[220]

Wnt9b ^clf1

1856821

A

1920s

Downstream, +

Produces transcript antisense to Wnt9b.

[221, 222]

Zfp69 ^IAP

N

Unknown,

present in C57BL/6, NZO,

other strains

?

Intron 3 of Zfp69, +

IAP causes premature polyadenylation and alternate splicing. Loss of functional Zfp69 in strains carrying the IAP is protective against diabetes.

[223]

9630033F20Rik

N

C3H/HeDiSnJ

~ 1985?

Exon 5, −

Deletion of exon 5, decreased gene expression. Occurs in “lew” mice with point mutation in Vamp1 thought to be cause. IAP may contribute.

[224, 225]