Phenotypes associated with this allele

• Allele Symbol: Tbl1xr1^em2H
• Allele Name: endonuclease-mediated mutation 2, Harwell
• Allele ID: MGI:7469825
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbl1xr1^em2H/Tbl1xr1^em2H	C57BL/6J-Tbl1xr1^em2H	MGI:7469827

Genotype
MGI:7469827

hm1

• Allelic Composition: Tbl1xr1^em2H/Tbl1xr1^em2H
• Genetic Background: C57BL/6J-Tbl1xr1^em2H

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

growth/size/body

decreased body fat mass ( J:335355 )

increased lean body mass ( J:335355 )

decreased body weight ( J:335355 )

♂ • body weight of males, but not females, is lower at all time points tested

adipose tissue

decreased body fat mass ( J:335355 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:335355 )

• ABR thresholds are moderately elevated in response to a range of stimuli (8, 16, 32 kHz and a click stimulus)

• however, cochlea of adults does not show any obvious morphological abnormalities

skeleton

decreased bone mineral content ( J:335355 )

♂ • bone mineral composition is lower in males, but not females

decreased bone mineral density ( J:335355 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:335355 )

N • no differences in serum T4, T3, and TSH concentrations or hypothalamic Trh mRNA are seen

behavior/neurological

behavior/neurological phenotype ( J:335355 )

N • mice show no differences in locomotor activity from wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pierpont syndrome		DOID:0081362	OMIM:602342	J:335355