Phenotypes associated with this allele

• Allele Symbol: Six1^tm1Rsd
• Allele Name: targeted mutation 1, Michael G Rosenfeld
• Allele ID: MGI:2682355
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Six1^tm1Rsd/Six1^tm1Rsd	involves: 129S1/Sv * 129X1/SvJ	MGI:2682356
cx2	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Rsd/Six1^tm1Rsd	involves: 129S1/Sv * 129X1/SvJ	MGI:2682361
cx3	Eya1^tm1Rilm/Eya1^+ Six1^tm1Rsd/Six1^+	involves: 129S1/Sv * 129X1/SvJ	MGI:2682362

Genotype
MGI:2682356

hm1

• Allelic Composition: Six1^tm1Rsd/Six1^tm1Rsd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

renal/urinary system

abnormal kidney development ( J:86619 )

• homozygotes show failure of kidney organogenesis ranging from a severe, often asymmetrical, reduction in kidney size to virtual absence of kidneys

small kidney ( J:86619 )

• some homozygotes show a severe, often asymmetrical, reduction in kidney size

absent kidney ( J:86619 )

• some homozygotes display complete absence of kidneys

muscle

abnormal muscle precursor cell migration ( J:86619 )

• at E10.5, homozygotes show a reduction of limb-muscle precursor cells, which are ectopically located at the proximal region of limb

abnormal hypaxial muscle morphology ( J:86619 )

• at E17.5, homozygotes lack most migratory hypaxial muscles, including those of the forelimbs, diaphragm, and tongue

• hypaxial muscles of the hindlimbs are less affected, esp. at the proximal region

skeleton

abnormal thoracic cage morphology ( J:86619 )

• homozygotes consistently display severe rib cage malformation

rib fusion ( J:86619 )

• homozygotes often exhibit fusion of distal rib cartilage

endocrine/exocrine glands

small adenohypophysis ( J:86619 )

• a few homozygotes display a minimal (~10%) reduction in anterior pituitary size

cellular

increased apoptosis ( J:86619 )

• at E9.5-E11.5, homozygous mutant embryos display increased apoptosis in both hypaxial muscle precursor cells (4-fold) and metanephrogenic mesenchyme (3.5-fold), as shown by TUNEL assays

abnormal muscle precursor cell migration ( J:86619 )

• at E10.5, homozygotes show a reduction of limb-muscle precursor cells, which are ectopically located at the proximal region of limb

decreased cell proliferation ( J:86619 )

• at E9.5-E11.5, homozygous mutant embryos display decreased BrdU incorporation in both hypaxial muscle precursor cells and metanephrogenic mesenchyme

hearing/vestibular/ear

absent semicircular canals ( J:86619 )

absent inner ear ( J:86619 )

• homozygotes exhibit virtual absence of inner ear structures

respiratory system

abnormal nose morphology ( J:86619 )

• homozygotes display defective nasal development

nervous system

small adenohypophysis ( J:86619 )

• a few homozygotes display a minimal (~10%) reduction in anterior pituitary size

craniofacial

abnormal nose morphology ( J:86619 )

• homozygotes display defective nasal development

growth/size/body

abnormal nose morphology ( J:86619 )

• homozygotes display defective nasal development

Genotype
MGI:2682361

cx2

• Allelic Composition: Eya1^tm1Rilm/Eya1^tm1Rilm; Six1^tm1Rsd/Six1^tm1Rsd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

renal/urinary system

absent kidney ( J:86619 )

muscle

abnormal epaxial muscle morphology ( J:86619 )

• at E17.5, double homozygotes display a severe reduction of epaxial muscles

absent hypaxial muscle ( J:86619 )

• at E17.5, double homozygotes show complete absence of all hypaxial muscles, with no detectable limb muscles

endocrine/exocrine glands

small pituitary gland ( J:86619 )

• at E17.5, double homozygotes show a 5-10-fold reduction in pituitary gland volume

pituitary gland hypoplasia ( J:86619 )

• at E17.5, in contrast to either single homozygote, double homozygotes display severe pituitary gland hypoplasia

nervous system

small pituitary gland ( J:86619 )

• at E17.5, double homozygotes show a 5-10-fold reduction in pituitary gland volume

pituitary gland hypoplasia ( J:86619 )

• at E17.5, in contrast to either single homozygote, double homozygotes display severe pituitary gland hypoplasia

Genotype
MGI:2682362

cx3

• Allelic Composition: Eya1^tm1Rilm/Eya1⁺; Six1^tm1Rsd/Six1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

renal/urinary system

renal hypoplasia ( J:86619 )

• double heterozygotes display renal hypoplasia, not observed in single heterozygotes

single kidney ( J:86619 )

• double heterozygotes often display unilateral kidney ablation