Phenotypes associated with this allele

• Allele Symbol: Tmem132a^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4362366
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem132a^tm1a(KOMP)Wtsi/Tmem132a^tm1a(KOMP)Wtsi	C57BL/6N-Tmem132a^tm1a(KOMP)Wtsi	MGI:7738444

Genotype
MGI:7738444

hm1

• Allelic Composition: Tmem132a^{tm1a(KOMP)Wtsi}/Tmem132a^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Tmem132a^{tm1a(KOMP)Wtsi}

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

mortality/aging

perinatal lethality, complete penetrance ( J:355098 )

• homozygous embryos die at birth; all pups are non-viable immediately after birth with no signs of normal breathing or sustained life

embryo

abnormal embryo development ( J:355098 )

• at E10.5, embryos show significantly reduced expression of Axin2, a direct transcriptional target of the Wnt/beta-catenin pathway

• mRNA levels of T (Brachyury) and Tbx6, downstream targets of canonical Wnt signaling in the tail bud, are significantly decreased

• whole E10.5 embryo lysates show reduced levels of both total and active beta-catenin protein levels, further indicating suppression of Wnt signaling

caudal body truncation ( J:355098 )

• at E13.5, embryos show restricted posterior development

small forelimb buds ( J:355098 )

• at E13.5, forelimb buds appear underdeveloped

small hindlimb buds ( J:355098 )

• at E13.5, hindlimb buds appear underdeveloped

abnormal neural tube morphology ( J:355098 )

• at E10.5, embryos consistently show open and shortened posterior neural tubes

incomplete caudal neuropore closure ( J:355098 )

• at E10.5, embryos show incomplete elongation and disclosure of the caudal neural tube

open neural tube ( J:355098 )

• at E10.5

spina bifida ( J:355098 )

• at E13.5, all (11 of 11) embryos exhibit spina bifida

nervous system

abnormal neural tube morphology ( J:355098 )

• at E10.5, embryos consistently show open and shortened posterior neural tubes

incomplete caudal neuropore closure ( J:355098 )

• at E10.5, embryos show incomplete elongation and disclosure of the caudal neural tube

open neural tube ( J:355098 )

• at E10.5

spina bifida ( J:355098 )

• at E13.5, all (11 of 11) embryos exhibit spina bifida

limbs/digits/tail

forelimb syndactyly ( J:355098 )

• at E18.5, 9 of 11 embryos (82%) show forelimb syndactyly

abnormal limb development ( J:355098 )

small forelimb buds ( J:355098 )

• at E13.5, forelimb buds appear underdeveloped

small hindlimb buds ( J:355098 )

• at E13.5, hindlimb buds appear underdeveloped

renal/urinary system

kidney cyst ( J:355098 )

• H&E staining of kidney sections shows renal cysts at E18.5

hydronephrosis ( J:355098 )

• at E18.5, many kidneys exhibit hydronephrosis, characterized by hypoplastic and/or renal pelvis dilation and a fluid-filled urinary tract

renal hypoplasia ( J:355098 )

• at E18.5, 10 of 11 (91%) embryos exhibit hypoplastic kidneys

• qRT-PCR analysis shows reduced expression of Wnt/beta-catenin signaling components in E14.5 kidneys

respiratory system

abnormal lung vasculature morphology ( J:355098 )

• at E18.5, embryos exhibit less vascularized lungs

impaired lung alveolus development ( J:355098 )

• alveolar formation is reduced at E18.5

pulmonary hypoplasia ( J:355098 )

• at E18.5, 8 of 10 embryos (80%) embryos exhibit hypoplastic lungs

• qRT-PCR analysis shows reduced expression of Wnt/beta-catenin signaling components in E14.5 lungs

skeleton

abnormal axial skeleton morphology ( J:355098 )

• by E18.5, embryos exhibit truncation of the axial skeleton

digestive/alimentary system

abnormal anus morphology ( J:355098 )

• at E18.5, embryos exhibit an obstructed anus with normal histology

abnormal large intestine crypts of Lieberkuhn morphology ( J:355098 )

• at E18.5, 10 of 11 (91%) embryos exhibit shortened colons with reduced crypt formation

decreased colon length ( J:355098 )

• at E18.5, 10 of 11 (91%) embryos exhibit shortened colons with reduced crypt formation

cardiovascular system

abnormal lung vasculature morphology ( J:355098 )

• at E18.5, embryos exhibit less vascularized lungs

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:355098 )

• at E18.5, 10 of 11 (91%) embryos exhibit shortened colons with reduced crypt formation

growth/size/body

kidney cyst ( J:355098 )

• H&E staining of kidney sections shows renal cysts at E18.5

homeostasis/metabolism

abnormal protein level ( J:355098 )

• MEFs treated with Wnt3a for 24 h show decreased levels of LRP6 (low density lipoprotein receptor-related protein 6) and beta-catenin proteins, indicating impaired Wnt signaling

• MEFs show a reduction in LRP6 protein levels under both untreated and Wnt3a-treated conditions, indicating compromised LRP6 protein stability

• similarly, E10.5 embryos exhibited reduced LRP6 and beta-catenin protein expression