All Phenotypes Srsf1<tm1Xdfu> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Myl2^tm1(cre)Krc/Myl2⁺ Srsf1^tm1Xdfu/Srsf1^tm1Xdfu	involves: 129S4/SvJae	MGI:3530447
cn2	Srsf1^tm1Xdfu/Srsf1^tm1Xdfu Tg(Chx10-EGFP/cre,-ALPP)2Clc/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3826502

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Srsf1^tm1Xdfu/Srsf1^tm1Xdfu
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Srsf1^tm1Xdfu mutation (1 available); any Srsf1 mutation (25 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:96039 )

• homozygous mice die between 6-8 weeks after birth from the heart malfunction with a gender difference (males more severely affected then females)

cardiovascular system

abnormal myocardial fiber morphology ( J:96039 )

cardiac hypertrophy ( J:96039 )

decreased heart left ventricle posterior wall thickness ( J:96039 )

• thinner posterior wall of the left ventricle

cardiac fibrosis ( J:96039 )

dilated cardiomyopathy ( J:96039 )

• seen 6-7 weeks after birth

abnormal cardiac muscle contractility ( J:96039 )

• cardiomyocytes have fuzzy z-lines and shortened sarcomeres that appear locked in the contracted state

• severe excitation-contraction coupling defect causing a hypercontraction phenotype at the single cell level

decreased heart rate ( J:96039 )

muscle

abnormal myocardial fiber morphology ( J:96039 )

dilated cardiomyopathy ( J:96039 )

• seen 6-7 weeks after birth

abnormal cardiac muscle contractility ( J:96039 )

• cardiomyocytes have fuzzy z-lines and shortened sarcomeres that appear locked in the contracted state

• severe excitation-contraction coupling defect causing a hypercontraction phenotype at the single cell level

growth/size/body

cardiac hypertrophy ( J:96039 )

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

increased retina apoptosis ( J:143205 )

• at E12.5, 13.5, and 18.0, cell death is significantly elevated; increased apoptosis is observed primarily in central retina at E12.5 and 13.5 while periphery is affected at E18.0

abnormal optic nerve morphology ( J:143205 )

• thin optic nerve

microphthalmia ( J:143205 )

• newborn mice have small eyes

• total weight of eyes is 50% of wild-type

abnormal retina morphology ( J:143205 )

• size of retina is decreased compared to wild-type

• retina is detached from retinal pigment epithelium (RPE), while abutting the lens

• eyes analyzed at P7 following BrdU injection at E16 show reduced cell numbers in outer nuclear layer (ONL), inner nuclear layer (INL), and ganglion cell layer (GCL)

decreased amacrine cell number ( J:143205 )

• by P7, cell number is significantly reduced

• 2-fold decrease in BrdU-labeled cells is observed at P7 (BrdU injection at E16)

abnormal retina horizontal cell morphology ( J:143205 )

• by P7, cell number is significantly reduced

abnormal retina inner limiting membrane morphology ( J:143205 )

• inner limiting membrane (ILM) structure is perturbed; retina has dysmorphic fibrous layer instead of well-organized ILM

abnormal retina ganglion layer morphology ( J:143205 )

• ganglion cell layer (GCL) exhibits decreased cellularity in postnatal mice

decreased retina ganglion cell number ( J:143205 )

• by P7, few ganglion cells are detected in retina

retina degeneration ( J:143205 )

• by P14, rosettes are observed in retina

• ciliary body is fused to retina, so that it could not be separated from neural retina

• almost complete retinal degeneration has occurred by P30; entire eye is absent in mutants

nervous system

decreased amacrine cell number ( J:143205 )

• by P7, cell number is significantly reduced

• 2-fold decrease in BrdU-labeled cells is observed at P7 (BrdU injection at E16)

decreased retina ganglion cell number ( J:143205 )

• by P7, few ganglion cells are detected in retina

abnormal retina horizontal cell morphology ( J:143205 )

• by P7, cell number is significantly reduced

abnormal optic nerve morphology ( J:143205 )

• thin optic nerve

cellular

increased retina apoptosis ( J:143205 )

• at E12.5, 13.5, and 18.0, cell death is significantly elevated; increased apoptosis is observed primarily in central retina at E12.5 and 13.5 while periphery is affected at E18.0

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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