All Phenotypes Itpr3<tf> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itpr3^tf/Itpr3^tf	BTBR T⁺ Itpr3^tf/J	MGI:5763612
hm2	Itpr3^tf/Itpr3^tf	involves: BTBR	MGI:3653237
cx3	Itpr3^tf/Itpr3^tf Prkra^lear-5J/Prkra^lear-5J	BTBR-Prkra^lear-5J Itpr3^tf/GrsrJ	MGI:5692145
cx4	Itpr3^tf/Itpr3⁺ T/T⁺ t^hr4/t⁺	involves: BTBR	MGI:5465159
cx5	T/T⁺ t^h7m2/t⁺ Itpr3^tf/Itpr3⁺	involves: BTBR	MGI:5465016
cx6	t⁺/t^h20 Itpr3^tf/Itpr3^tf	involves: BTBR	MGI:4868369
cx7	Itpr3^tf/Itpr3⁺ t^h7m2/t⁺	involves: BTBR	MGI:5465015

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

behavior/neurological

impaired social transmission of food preference ( J:138842 )

• mice eat less of the food familiarized by interacting with their demonstrator cage mate than of a completely unfamiliar food

• mice sniff the whiskers and mouth of their demonstrator cage mate less frequently and for shorter periods of time

decreased anxiety-related response ( J:138842 )

• percentage of time spent on the open segments of the elevated zero maze is higher, indicating very low anxiety-like traits

abnormal allogrooming behavior ( J:138842 )

• number of bouts of social grooming, in which one member of the pair grooms the other, is less in 21 day old mice

increased grooming behavior ( J:138842 )

• both juvenile and adult mice exhibit high levels of repetitive self-grooming

abnormal locomotor activation ( J:138842 )

• locomotion and exploratory activity in a novel open field is initially higher, but mice show normal activity levels after habituation

abnormal social investigation ( J:138842 )

• mice show reduced social approach, low reciprocal social interactions and impaired juvenile play

abnormal vocalization ( J:138605 )

• pups show an usual pattern of calls, emitting high levels of harmonics, two-syllable, and composite calls, but minimal numbers of chevron-shaped syllables, upward, downward, and short calls

excessive vocalization ( J:138605 )

• pups call more loudly and more frequently when separated from their mothers and siblings

nervous system

abnormal brain commissure morphology ( J:222265 )

• Probst bundles are present on both sides of the midline in 100% of mice

• no streamline connections between homologous interhemispheric areas via the anterior or hippocampal commissure are seen

• neocortices are not connected by the corpus callosum, through other forebrain commissures, nor via ectopic forebrain connections

absent corpus callosum ( J:222265 )

• agenesis of the corpus callosum

decreased hippocampal commissure size ( J:222265 )

• hippocampal commissure is greatly reduced in size and volume

decreased anterior commissure size ( J:222265 )

• anterior commissure is reduced in size and volume

abnormal cerebral cortex morphology ( J:222265 )

• thickness of V1 cortical area is increased at P7 but not in adults

• changes in cortical thickness is not due to an increase in cell number of a specific cortical laminar population or due to increased apoptosis

abnormal neocortex morphology ( J:222265 )

• the third barrel in row C (C3) of the posterior medial barrel subfield of the neocortex is located in a more medial relative position than in controls

• length of the cortex is reduced at P10, the width is reduced at P22

• the relative size of the posterior medial barrel subfield of the neocortex is reduced at P10 and the relative size of the visual area is reduced at P10 and P22

• V1 area of the neocortex is reduced

• the relative position of V1 and the posterior medial barrel subfield of the neocortex are shifted towards the midline

growth/size/body

increased body weight ( J:138605 )

• mice are heavier than C57BL/6 controls on P4, 6, 8, and 12

increased growth rate ( J:138605 )

• mice show faster growth and development, having a fully developed righting reflex response by P2 compared to P6 in C57BL/6 controls, full negative geotaxis response acquired by P4 versus P8, earlier detachment of pinnae, opening of the eyes and incisor eruption, shorter latencies on the homing test suggesting more rapid development social olfactory and cognitive abilities, accelerated acquisition of various reflexes, and greater response to an acoustic stimulus on P12

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:138605 , J:138842 , J:222265

Allelic Composition	Itpr3^tf/Itpr3^tf
Genetic Background	involves: BTBR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr3^tf mutation (20 available); any Itpr3 mutation (174 available)

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

integument

abnormal coat/ hair morphology ( J:273 )

• detectable about 4 weeks of age

• alternating waves of hair loss and growth are repeated throughout the life of the mouse

abnormal hair growth ( J:273 )

sparse hair ( J:273 )

• waves of hair loss and growth create a sparse hair appearance anterior to posterior, ventral and dorsal

abnormal hair cycle ( J:273 )

• a wave of hair loss begins ventrally under the jaw and spreads posteriorly

• a few days after ventral hair loss a similar dorsal wave of hair loss begins at the face, not including whiskers

• a normal wave of hair growth follows the initial loss pattern

behavior/neurological

increased fluid intake ( J:201643 )

• compared with NZW mice

abnormal liquid preference ( J:201643 )

• in a 48 h two-bottle choice test, mice exhibit higher preference for calcium chloride, calcium lactate, denatorium, quinine hydrochloride and caffeine compared with NZW mice

• in a 48 h two-bottle choice test, mice exhibit lower preference for sodium chloride, inosine monophosphate, trisodium pyrophosphate, saccharin, sucrose and hydrochloride compared with NZW mice

• in a 96 h two-bottle choice tests, mice exhibit higher preference for calcium chloride and calcium lactate compared with NZW mice

• in a 96 h two-bottle choice tests, mice exhibit lower preference for saccharin and citric acid compared with NZW mice

• however, mice exhibit normal response to capsaicin

low sweet preference ( J:201643 )

• in a 48 h two-bottle choice test, mice exhibit lower preference for saccharin and sucrose compared with NZW mice

• in a 96 h two-bottle choice tests, mice exhibit lower preference for saccharin compared with NZW mice

growth/size/body

increased body weight ( J:201643 )

• male, but not female, mice exhibit a slight increase in body weight compared with NZW mice

taste/olfaction

abnormal gustatory system physiology ( J:201643 )

• in a 48 h two-bottle choice test, mice exhibit higher preference for calcium chloride, calcium lactate, denatorium, quinine hydrochloride and caffeine compared with NZW mice

• in a 48 h two-bottle choice test, mice exhibit lower preference for sodium chloride, inosine monophosphate, trisodium pyrophosphate, saccharin, sucrose and hydrochloride compared with NZW mice

• in a 96 h two-bottle choice tests, mice exhibit higher preference for calcium chloride and calcium lactate compared with NZW mice

• in a 96 h two-bottle choice tests, mice exhibit lower preference for saccharin and citric acid compared with NZW mice

• however, mice exhibit normal response to capsaicin

Allelic Composition	Itpr3^tf/Itpr3^tf Prkra^lear-5J/Prkra^lear-5J
Genetic Background	BTBR-Prkra^lear-5J Itpr3^tf/GrsrJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr3^tf mutation (20 available); any Itpr3 mutation (174 available)
Prkra^lear-5J mutation (1 available); any Prkra mutation (24 available)

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

craniofacial

abnormal cranium morphology ( J:223062 )

• the skull is shorter and misshapen with incomplete ossification and some have an open foramen

small ears ( J:223062 )

• ear pinnae are less than half the normal size

skeleton

abnormal cranium morphology ( J:223062 )

• the skull is shorter and misshapen with incomplete ossification and some have an open foramen

decreased bone mineral content ( J:223062 )

• a significant reduction in bone mineral content of the skull is found in males, with a trend toward significance in females

abnormal intramembranous bone ossification ( J:223062 )

• the skull shows incomplete ossification

nervous system

neurodegeneration ( J:223062 )

• some neurons in the dorsal root ganglia and trigeminal ganglion were found to be apoptotic or necrotic at 3 weeks of age

muscle

dystonia ( J:223062 )

• ascending dystonia beginning at 2 weeks of age and progressing until death at approximately 3 weeks of age

• elongated step/push gait with the hind limbs, and impaired grasping reflex including gnarled wrists are found at 3 weeks of age, and the kinked tail appears to have a neurological cause

behavior/neurological

dystonia ( J:223062 )

• ascending dystonia beginning at 2 weeks of age and progressing until death at approximately 3 weeks of age

• elongated step/push gait with the hind limbs, and impaired grasping reflex including gnarled wrists are found at 3 weeks of age, and the kinked tail appears to have a neurological cause

paralysis ( J:223062 )

mortality/aging

premature death ( J:223062 )

• most homozygotes die by 3 weeks of age and none have survived to breeding age

limbs/digits/tail

kinked tail ( J:223062 )

• the bone structure of the kinked tail is normal and the tail straightens significantly after death indicating a neurological cause of the kinked tail

growth/size/body

small ears ( J:223062 )

• ear pinnae are less than half the normal size

decreased body size ( J:223062 )

• very runted body size compared with littermate control

hearing/vestibular/ear

small ears ( J:223062 )

• ear pinnae are less than half the normal size

impaired hearing ( J:223062 )

Allelic Composition	Itpr3^tf/Itpr3⁺ T/T⁺ t^hr4/t⁺
Genetic Background	involves: BTBR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr3^tf mutation (20 available); any Itpr3 mutation (174 available)
T mutation (23 available); any T mutation (60 available)
t^hr4 mutation (0 available); any t mutation (19 available)

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

reproductive system

transmission ratio distortion ( J:169366 )

• high transmission ratio distortion in favour of the t^hr4 haplotype from males

Allelic Composition	T/T⁺ t^h7m2/t⁺ Itpr3^tf/Itpr3⁺
Genetic Background	involves: BTBR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr3^tf mutation (20 available); any Itpr3 mutation (174 available)
T mutation (23 available); any T mutation (60 available)
t^h7m2 mutation (0 available); any t mutation (19 available)

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

reproductive system

reproductive system phenotype ( J:34190 )

N	• mice exhibit normal fertility

Allelic Composition	t⁺/t^h20 Itpr3^tf/Itpr3^tf
Genetic Background	involves: BTBR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr3^tf mutation (20 available); any Itpr3 mutation (174 available)
t^h20 mutation (0 available); any t mutation (19 available)

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

integument

abnormal hair growth ( J:5889 )

• due to a deletion associated with t^h20, this genotype looks like a mouse homozygous for the recessive mutation tufted

Allelic Composition	Itpr3^tf/Itpr3⁺ t^h7m2/t⁺
Genetic Background	involves: BTBR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr3^tf mutation (20 available); any Itpr3 mutation (174 available)
t^h7m2 mutation (0 available); any t mutation (19 available)

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

reproductive system

reproductive system phenotype ( J:34190 )

N	• mice exhibit normal fertility

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