Phenotypes associated with this allele

• Allele Symbol: Sh3pxd2b^{Gt(GST_1527_E5)Lex}
• Allele Name: gene trap GST_1527_E5, Lexicon Genetics
• Allele ID: MGI:4439499
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sh3pxd2b^Gt(GST_1527_E5)Lex/Sh3pxd2b^Gt(GST_1527_E5)Lex	involves: 129X1/SvJ * C57BL/6	MGI:4439510
cx2	Sh3pxd2a^Gt(OST445753)Lex/Sh3pxd2a^Gt(OST445753)Lex Sh3pxd2b^Gt(GST_1527_E5)Lex/Sh3pxd2b^Gt(GST_1527_E5)Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:5750062

Genotype
MGI:4439510

hm1

• Allelic Composition: Sh3pxd2b^{Gt(GST_1527_E5)Lex}/Sh3pxd2b^{Gt(GST_1527_E5)Lex}
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

respiratory system

short nasal bone ( J:158635 )

mortality/aging

postnatal lethality ( J:158635 )

• 20% of mice die within the first week of life of unknown causes

skeleton

abnormal sagittal suture morphology ( J:158635 )

• absent

abnormal basicranium morphology ( J:158635 )

• with a more vertical orientation

abnormal neurocranium morphology ( J:158635 )

• decreased anterior posterior diameter

Wormian bones ( J:158635 )

• Wormian bones are present unlike in wild-type mice

abnormal tooth morphology ( J:158635 )

• teeth are small and poorly aligned compared to in wild-type mice

short mandible ( J:158635 )

short maxilla ( J:158635 )

micrognathia ( J:158635 )

short nasal bone ( J:158635 )

abnormal xiphoid process morphology ( J:158635 )

• prominent

abnormal iliac crest morphology ( J:158635 )

• iliac crest shows shortening and widening at 2 months of age

abnormal ilium wing morphology ( J:158635 )

• reduced flaring of iliac wings at 2 months of age

kyphosis ( J:158635 )

• thoracic

lordosis ( J:158635 )

• at 2 months, mice exhibit mild lumbosacral lordosis unlike wild-type mice

cardiovascular system

abnormal myocardial trabeculae morphology ( J:158635 )

• 6 of 8 mice exhibit immature and disarrayed trabeculae compared to in wild-type mice

abnormal mitral valve morphology ( J:158635 )

• thin in 4 of 8 mice

mitral valve prolapse ( J:158635 )

abnormal heart shape ( J:158635 )

• 5 of 8 mice exhibit hearts with apical indentation unlike wild-type mice

abnormal heart ventricle morphology ( J:158635 )

thin interventricular septum ( J:158635 )

• mice exhibit reduced septal anterior wall thickness compared with wild-type mice

decreased heart rate ( J:158635 )

vision/eye

abnormal cornea morphology ( J:158635 )

• mice exhibit apposition of the peripheral iris to the corneal endothelium and enlargement of the cornea compared with wild-type mice

increased cornea thickness ( J:158635 )

• some mice exhibit corneal thickening compared with wild-type mice

increased cornea size ( J:158635 )

cornea opacity ( J:158635 )

• in some mice

ocular hypertelorism ( J:158635 )

phthisis bulbi ( J:158635 )

• some mice exhibit phthisis bulbi with partial exudation of lens unlike wild-type mice

ocular hypertension ( J:158635 )

adipose tissue

decreased subcutaneous adipose tissue amount ( J:158635 )

decreased abdominal adipose tissue amount ( J:158635 )

growth/size/body

abnormal tooth morphology ( J:158635 )

• teeth are small and poorly aligned compared to in wild-type mice

short nasal bone ( J:158635 )

decreased body size ( J:158635 )

• at weaning but not birth

postnatal growth retardation ( J:158635 )

craniofacial

abnormal craniofacial morphology ( J:158635 )

abnormal sagittal suture morphology ( J:158635 )

• absent

abnormal basicranium morphology ( J:158635 )

• with a more vertical orientation

abnormal neurocranium morphology ( J:158635 )

• decreased anterior posterior diameter

Wormian bones ( J:158635 )

• Wormian bones are present unlike in wild-type mice

abnormal tooth morphology ( J:158635 )

• teeth are small and poorly aligned compared to in wild-type mice

short mandible ( J:158635 )

short maxilla ( J:158635 )

micrognathia ( J:158635 )

short nasal bone ( J:158635 )

muscle

abnormal myocardial trabeculae morphology ( J:158635 )

• 6 of 8 mice exhibit immature and disarrayed trabeculae compared to in wild-type mice

integument

decreased subcutaneous adipose tissue amount ( J:158635 )

Genotype
MGI:5750062

cx2

• Allelic Composition: Sh3pxd2a^{Gt(OST445753)Lex}/Sh3pxd2a^{Gt(OST445753)Lex}; Sh3pxd2b^{Gt(GST_1527_E5)Lex}/Sh3pxd2b^{Gt(GST_1527_E5)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

mortality/aging

prenatal lethality, complete penetrance ( J:219236 )

• double homozygotes die before birth but after implantation

• survival improves with one out of four wild type alleles but is still less than expected